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NM_007294.4(BRCA1):c.5524_5531del (p.Val1842fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 27, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002518503.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.5524_5531del (p.Val1842fs)]

NM_007294.4(BRCA1):c.5524_5531del (p.Val1842fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5524_5531del (p.Val1842fs)
HGVS:
  • NC_000017.11:g.43045740_43045747del
  • NG_005905.2:g.172238_172245del
  • NM_001407571.1:c.5310_5317delTGTAGCAC
  • NM_001407581.1:c.5589_5596delTGTAGCAC
  • NM_001407582.1:c.5589_5596delTGTAGCAC
  • NM_001407583.1:c.5586_5593delTGTAGCAC
  • NM_001407585.1:c.5586_5593delTGTAGCAC
  • NM_001407587.1:c.5586_5593delTGTAGCAC
  • NM_001407590.1:c.5583_5590delTGTAGCAC
  • NM_001407591.1:c.5583_5590delTGTAGCAC
  • NM_001407593.1:c.5523_5530delTGTAGCAC
  • NM_001407594.1:c.5523_5530delTGTAGCAC
  • NM_001407596.1:c.5523_5530delTGTAGCAC
  • NM_001407597.1:c.5523_5530delTGTAGCAC
  • NM_001407598.1:c.5523_5530delTGTAGCAC
  • NM_001407602.1:c.5523_5530delTGTAGCAC
  • NM_001407603.1:c.5523_5530delTGTAGCAC
  • NM_001407605.1:c.5523_5530delTGTAGCAC
  • NM_001407610.1:c.5520_5527delTGTAGCAC
  • NM_001407611.1:c.5520_5527delTGTAGCAC
  • NM_001407612.1:c.5520_5527delTGTAGCAC
  • NM_001407613.1:c.5520_5527delTGTAGCAC
  • NM_001407614.1:c.5520_5527delTGTAGCAC
  • NM_001407615.1:c.5520_5527delTGTAGCAC
  • NM_001407616.1:c.5520_5527delTGTAGCAC
  • NM_001407617.1:c.5520_5527delTGTAGCAC
  • NM_001407618.1:c.5520_5527delTGTAGCAC
  • NM_001407619.1:c.5520_5527delTGTAGCAC
  • NM_001407620.1:c.5520_5527delTGTAGCAC
  • NM_001407621.1:c.5520_5527delTGTAGCAC
  • NM_001407622.1:c.5520_5527delTGTAGCAC
  • NM_001407623.1:c.5520_5527delTGTAGCAC
  • NM_001407624.1:c.5520_5527delTGTAGCAC
  • NM_001407625.1:c.5520_5527delTGTAGCAC
  • NM_001407626.1:c.5520_5527delTGTAGCAC
  • NM_001407627.1:c.5517_5524delTGTAGCAC
  • NM_001407628.1:c.5517_5524delTGTAGCAC
  • NM_001407629.1:c.5517_5524delTGTAGCAC
  • NM_001407630.1:c.5517_5524delTGTAGCAC
  • NM_001407631.1:c.5517_5524delTGTAGCAC
  • NM_001407632.1:c.5517_5524delTGTAGCAC
  • NM_001407633.1:c.5517_5524delTGTAGCAC
  • NM_001407634.1:c.5517_5524delTGTAGCAC
  • NM_001407635.1:c.5517_5524delTGTAGCAC
  • NM_001407636.1:c.5517_5524delTGTAGCAC
  • NM_001407637.1:c.5517_5524delTGTAGCAC
  • NM_001407638.1:c.5517_5524delTGTAGCAC
  • NM_001407639.1:c.5517_5524delTGTAGCAC
  • NM_001407640.1:c.5517_5524delTGTAGCAC
  • NM_001407641.1:c.5517_5524delTGTAGCAC
  • NM_001407642.1:c.5517_5524delTGTAGCAC
  • NM_001407644.1:c.5514_5521delTGTAGCAC
  • NM_001407645.1:c.5514_5521delTGTAGCAC
  • NM_001407646.1:c.5511_5518delTGTAGCAC
  • NM_001407647.1:c.5508_5515delTGTAGCAC
  • NM_001407648.1:c.5466_5473delTGTAGCAC
  • NM_001407649.1:c.5463_5470delTGTAGCAC
  • NM_001407652.1:c.5445_5452delTGTAGCAC
  • NM_001407653.1:c.5445_5452delTGTAGCAC
  • NM_001407654.1:c.5445_5452delTGTAGCAC
  • NM_001407655.1:c.5445_5452delTGTAGCAC
  • NM_001407656.1:c.5442_5449delTGTAGCAC
  • NM_001407657.1:c.5442_5449delTGTAGCAC
  • NM_001407658.1:c.5442_5449delTGTAGCAC
  • NM_001407659.1:c.5439_5446delTGTAGCAC
  • NM_001407660.1:c.5439_5446delTGTAGCAC
  • NM_001407661.1:c.5439_5446delTGTAGCAC
  • NM_001407662.1:c.5439_5446delTGTAGCAC
  • NM_001407663.1:c.5439_5446delTGTAGCAC
  • NM_001407664.1:c.5400_5407delTGTAGCAC
  • NM_001407665.1:c.5400_5407delTGTAGCAC
  • NM_001407666.1:c.5400_5407delTGTAGCAC
  • NM_001407667.1:c.5400_5407delTGTAGCAC
  • NM_001407668.1:c.5400_5407delTGTAGCAC
  • NM_001407669.1:c.5400_5407delTGTAGCAC
  • NM_001407670.1:c.5397_5404delTGTAGCAC
  • NM_001407671.1:c.5397_5404delTGTAGCAC
  • NM_001407672.1:c.5397_5404delTGTAGCAC
  • NM_001407673.1:c.5397_5404delTGTAGCAC
  • NM_001407674.1:c.5397_5404delTGTAGCAC
  • NM_001407675.1:c.5397_5404delTGTAGCAC
  • NM_001407676.1:c.5397_5404delTGTAGCAC
  • NM_001407677.1:c.5397_5404delTGTAGCAC
  • NM_001407678.1:c.5397_5404delTGTAGCAC
  • NM_001407679.1:c.5397_5404delTGTAGCAC
  • NM_001407680.1:c.5397_5404delTGTAGCAC
  • NM_001407681.1:c.5394_5401delTGTAGCAC
  • NM_001407682.1:c.5394_5401delTGTAGCAC
  • NM_001407683.1:c.5394_5401delTGTAGCAC
  • NM_001407684.1:c.5394_5401delTGTAGCAC
  • NM_001407685.1:c.5394_5401delTGTAGCAC
  • NM_001407686.1:c.5394_5401delTGTAGCAC
  • NM_001407687.1:c.5394_5401delTGTAGCAC
  • NM_001407688.1:c.5394_5401delTGTAGCAC
  • NM_001407689.1:c.5394_5401delTGTAGCAC
  • NM_001407690.1:c.5391_5398delTGTAGCAC
  • NM_001407691.1:c.5391_5398delTGTAGCAC
  • NM_001407692.1:c.5382_5389delTGTAGCAC
  • NM_001407694.1:c.5382_5389delTGTAGCAC
  • NM_001407695.1:c.5382_5389delTGTAGCAC
  • NM_001407696.1:c.5382_5389delTGTAGCAC
  • NM_001407697.1:c.5382_5389delTGTAGCAC
  • NM_001407698.1:c.5382_5389delTGTAGCAC
  • NM_001407724.1:c.5382_5389delTGTAGCAC
  • NM_001407725.1:c.5382_5389delTGTAGCAC
  • NM_001407726.1:c.5382_5389delTGTAGCAC
  • NM_001407727.1:c.5382_5389delTGTAGCAC
  • NM_001407728.1:c.5382_5389delTGTAGCAC
  • NM_001407729.1:c.5382_5389delTGTAGCAC
  • NM_001407730.1:c.5382_5389delTGTAGCAC
  • NM_001407731.1:c.5382_5389delTGTAGCAC
  • NM_001407732.1:c.5379_5386delTGTAGCAC
  • NM_001407733.1:c.5379_5386delTGTAGCAC
  • NM_001407734.1:c.5379_5386delTGTAGCAC
  • NM_001407735.1:c.5379_5386delTGTAGCAC
  • NM_001407736.1:c.5379_5386delTGTAGCAC
  • NM_001407737.1:c.5379_5386delTGTAGCAC
  • NM_001407738.1:c.5379_5386delTGTAGCAC
  • NM_001407739.1:c.5379_5386delTGTAGCAC
  • NM_001407740.1:c.5379_5386delTGTAGCAC
  • NM_001407741.1:c.5379_5386delTGTAGCAC
  • NM_001407742.1:c.5379_5386delTGTAGCAC
  • NM_001407743.1:c.5379_5386delTGTAGCAC
  • NM_001407744.1:c.5379_5386delTGTAGCAC
  • NM_001407745.1:c.5379_5386delTGTAGCAC
  • NM_001407746.1:c.5379_5386delTGTAGCAC
  • NM_001407747.1:c.5379_5386delTGTAGCAC
  • NM_001407748.1:c.5379_5386delTGTAGCAC
  • NM_001407749.1:c.5379_5386delTGTAGCAC
  • NM_001407750.1:c.5379_5386delTGTAGCAC
  • NM_001407751.1:c.5379_5386delTGTAGCAC
  • NM_001407752.1:c.5379_5386delTGTAGCAC
  • NM_001407838.1:c.5376_5383delTGTAGCAC
  • NM_001407839.1:c.5376_5383delTGTAGCAC
  • NM_001407841.1:c.5376_5383delTGTAGCAC
  • NM_001407842.1:c.5376_5383delTGTAGCAC
  • NM_001407843.1:c.5376_5383delTGTAGCAC
  • NM_001407844.1:c.5376_5383delTGTAGCAC
  • NM_001407845.1:c.5376_5383delTGTAGCAC
  • NM_001407846.1:c.5376_5383delTGTAGCAC
  • NM_001407847.1:c.5376_5383delTGTAGCAC
  • NM_001407848.1:c.5376_5383delTGTAGCAC
  • NM_001407849.1:c.5376_5383delTGTAGCAC
  • NM_001407850.1:c.5376_5383delTGTAGCAC
  • NM_001407851.1:c.5376_5383delTGTAGCAC
  • NM_001407852.1:c.5376_5383delTGTAGCAC
  • NM_001407853.1:c.5376_5383delTGTAGCAC
  • NM_001407854.1:c.*37_*44delTGTAGCAC
  • NM_001407858.1:c.*37_*44delTGTAGCAC
  • NM_001407859.1:c.*37_*44delTGTAGCAC
  • NM_001407860.1:c.*37_*44delTGTAGCAC
  • NM_001407861.1:c.*37_*44delTGTAGCAC
  • NM_001407862.1:c.5322_5329delTGTAGCAC
  • NM_001407863.1:c.5319_5326delTGTAGCAC
  • NM_001407874.1:c.5316_5323delTGTAGCAC
  • NM_001407875.1:c.5316_5323delTGTAGCAC
  • NM_001407879.1:c.5313_5320delTGTAGCAC
  • NM_001407881.1:c.5313_5320delTGTAGCAC
  • NM_001407882.1:c.5313_5320delTGTAGCAC
  • NM_001407884.1:c.5313_5320delTGTAGCAC
  • NM_001407885.1:c.5313_5320delTGTAGCAC
  • NM_001407886.1:c.5313_5320delTGTAGCAC
  • NM_001407887.1:c.5313_5320delTGTAGCAC
  • NM_001407889.1:c.5313_5320delTGTAGCAC
  • NM_001407894.1:c.5310_5317delTGTAGCAC
  • NM_001407895.1:c.5310_5317delTGTAGCAC
  • NM_001407896.1:c.5310_5317delTGTAGCAC
  • NM_001407897.1:c.5310_5317delTGTAGCAC
  • NM_001407898.1:c.5310_5317delTGTAGCAC
  • NM_001407899.1:c.5310_5317delTGTAGCAC
  • NM_001407900.1:c.5310_5317delTGTAGCAC
  • NM_001407902.1:c.5310_5317delTGTAGCAC
  • NM_001407904.1:c.5310_5317delTGTAGCAC
  • NM_001407906.1:c.5310_5317delTGTAGCAC
  • NM_001407907.1:c.5310_5317delTGTAGCAC
  • NM_001407908.1:c.5310_5317delTGTAGCAC
  • NM_001407909.1:c.5310_5317delTGTAGCAC
  • NM_001407910.1:c.5310_5317delTGTAGCAC
  • NM_001407915.1:c.5307_5314delTGTAGCAC
  • NM_001407916.1:c.5307_5314delTGTAGCAC
  • NM_001407917.1:c.5307_5314delTGTAGCAC
  • NM_001407918.1:c.5307_5314delTGTAGCAC
  • NM_001407919.1:c.5271_5278delTGTAGCAC
  • NM_001407920.1:c.5259_5266delTGTAGCAC
  • NM_001407921.1:c.5259_5266delTGTAGCAC
  • NM_001407922.1:c.5259_5266delTGTAGCAC
  • NM_001407923.1:c.5259_5266delTGTAGCAC
  • NM_001407924.1:c.5259_5266delTGTAGCAC
  • NM_001407925.1:c.5259_5266delTGTAGCAC
  • NM_001407926.1:c.5259_5266delTGTAGCAC
  • NM_001407927.1:c.5256_5263delTGTAGCAC
  • NM_001407928.1:c.5256_5263delTGTAGCAC
  • NM_001407929.1:c.5256_5263delTGTAGCAC
  • NM_001407930.1:c.5256_5263delTGTAGCAC
  • NM_001407931.1:c.5256_5263delTGTAGCAC
  • NM_001407932.1:c.5256_5263delTGTAGCAC
  • NM_001407933.1:c.5256_5263delTGTAGCAC
  • NM_001407934.1:c.5253_5260delTGTAGCAC
  • NM_001407935.1:c.5253_5260delTGTAGCAC
  • NM_001407936.1:c.5253_5260delTGTAGCAC
  • NM_001407937.1:c.*37_*44delTGTAGCAC
  • NM_001407938.1:c.*37_*44delTGTAGCAC
  • NM_001407939.1:c.*37_*44delTGTAGCAC
  • NM_001407940.1:c.*37_*44delTGTAGCAC
  • NM_001407941.1:c.*37_*44delTGTAGCAC
  • NM_001407942.1:c.*37_*44delTGTAGCAC
  • NM_001407943.1:c.*37_*44delTGTAGCAC
  • NM_001407944.1:c.*37_*44delTGTAGCAC
  • NM_001407945.1:c.*37_*44delTGTAGCAC
  • NM_001407946.1:c.5190_5197delTGTAGCAC
  • NM_001407947.1:c.5190_5197delTGTAGCAC
  • NM_001407948.1:c.5190_5197delTGTAGCAC
  • NM_001407949.1:c.5190_5197delTGTAGCAC
  • NM_001407950.1:c.5187_5194delTGTAGCAC
  • NM_001407951.1:c.5187_5194delTGTAGCAC
  • NM_001407952.1:c.5187_5194delTGTAGCAC
  • NM_001407953.1:c.5187_5194delTGTAGCAC
  • NM_001407954.1:c.5187_5194delTGTAGCAC
  • NM_001407955.1:c.5187_5194delTGTAGCAC
  • NM_001407956.1:c.5184_5191delTGTAGCAC
  • NM_001407957.1:c.5184_5191delTGTAGCAC
  • NM_001407958.1:c.5184_5191delTGTAGCAC
  • NM_001407959.1:c.5142_5149delTGTAGCAC
  • NM_001407960.1:c.5139_5146delTGTAGCAC
  • NM_001407962.1:c.5139_5146delTGTAGCAC
  • NM_001407963.1:c.5136_5143delTGTAGCAC
  • NM_001407964.1:c.5061_5068delTGTAGCAC
  • NM_001407965.1:c.5016_5023delTGTAGCAC
  • NM_001407966.1:c.4635_4642delTGTAGCAC
  • NM_001407967.1:c.4632_4639delTGTAGCAC
  • NM_001407968.1:c.2919_2926delTGTAGCAC
  • NM_001407969.1:c.2916_2923delTGTAGCAC
  • NM_001407970.1:c.2280_2287delTGTAGCAC
  • NM_001407971.1:c.2280_2287delTGTAGCAC
  • NM_001407972.1:c.2277_2284delTGTAGCAC
  • NM_001407973.1:c.2214_2221delTGTAGCAC
  • NM_001407974.1:c.2214_2221delTGTAGCAC
  • NM_001407975.1:c.2214_2221delTGTAGCAC
  • NM_001407976.1:c.2214_2221delTGTAGCAC
  • NM_001407977.1:c.2214_2221delTGTAGCAC
  • NM_001407978.1:c.2214_2221delTGTAGCAC
  • NM_001407979.1:c.2211_2218delTGTAGCAC
  • NM_001407980.1:c.2211_2218delTGTAGCAC
  • NM_001407981.1:c.2211_2218delTGTAGCAC
  • NM_001407982.1:c.2211_2218delTGTAGCAC
  • NM_001407983.1:c.2211_2218delTGTAGCAC
  • NM_001407984.1:c.2211_2218delTGTAGCAC
  • NM_001407985.1:c.2211_2218delTGTAGCAC
  • NM_001407986.1:c.2211_2218delTGTAGCAC
  • NM_001407990.1:c.2211_2218delTGTAGCAC
  • NM_001407991.1:c.2211_2218delTGTAGCAC
  • NM_001407992.1:c.2211_2218delTGTAGCAC
  • NM_001407993.1:c.2211_2218delTGTAGCAC
  • NM_001408392.1:c.2208_2215delTGTAGCAC
  • NM_001408396.1:c.2208_2215delTGTAGCAC
  • NM_001408397.1:c.2208_2215delTGTAGCAC
  • NM_001408398.1:c.2208_2215delTGTAGCAC
  • NM_001408399.1:c.2208_2215delTGTAGCAC
  • NM_001408400.1:c.2208_2215delTGTAGCAC
  • NM_001408401.1:c.2208_2215delTGTAGCAC
  • NM_001408402.1:c.2208_2215delTGTAGCAC
  • NM_001408403.1:c.2208_2215delTGTAGCAC
  • NM_001408404.1:c.2208_2215delTGTAGCAC
  • NM_001408406.1:c.2205_2212delTGTAGCAC
  • NM_001408407.1:c.2205_2212delTGTAGCAC
  • NM_001408408.1:c.2205_2212delTGTAGCAC
  • NM_001408409.1:c.2202_2209delTGTAGCAC
  • NM_001408410.1:c.2139_2146delTGTAGCAC
  • NM_001408411.1:c.2136_2143delTGTAGCAC
  • NM_001408412.1:c.2133_2140delTGTAGCAC
  • NM_001408413.1:c.2133_2140delTGTAGCAC
  • NM_001408414.1:c.2133_2140delTGTAGCAC
  • NM_001408415.1:c.2133_2140delTGTAGCAC
  • NM_001408416.1:c.2133_2140delTGTAGCAC
  • NM_001408418.1:c.2097_2104delTGTAGCAC
  • NM_001408419.1:c.2097_2104delTGTAGCAC
  • NM_001408420.1:c.2097_2104delTGTAGCAC
  • NM_001408421.1:c.2094_2101delTGTAGCAC
  • NM_001408422.1:c.2094_2101delTGTAGCAC
  • NM_001408423.1:c.2094_2101delTGTAGCAC
  • NM_001408424.1:c.2094_2101delTGTAGCAC
  • NM_001408425.1:c.2091_2098delTGTAGCAC
  • NM_001408426.1:c.2091_2098delTGTAGCAC
  • NM_001408427.1:c.2091_2098delTGTAGCAC
  • NM_001408428.1:c.2091_2098delTGTAGCAC
  • NM_001408429.1:c.2091_2098delTGTAGCAC
  • NM_001408430.1:c.2091_2098delTGTAGCAC
  • NM_001408431.1:c.2091_2098delTGTAGCAC
  • NM_001408432.1:c.2088_2095delTGTAGCAC
  • NM_001408433.1:c.2088_2095delTGTAGCAC
  • NM_001408434.1:c.2088_2095delTGTAGCAC
  • NM_001408435.1:c.2088_2095delTGTAGCAC
  • NM_001408436.1:c.2088_2095delTGTAGCAC
  • NM_001408437.1:c.2088_2095delTGTAGCAC
  • NM_001408438.1:c.2088_2095delTGTAGCAC
  • NM_001408439.1:c.2088_2095delTGTAGCAC
  • NM_001408440.1:c.2088_2095delTGTAGCAC
  • NM_001408441.1:c.2088_2095delTGTAGCAC
  • NM_001408442.1:c.2088_2095delTGTAGCAC
  • NM_001408443.1:c.2088_2095delTGTAGCAC
  • NM_001408444.1:c.2088_2095delTGTAGCAC
  • NM_001408445.1:c.2085_2092delTGTAGCAC
  • NM_001408446.1:c.2085_2092delTGTAGCAC
  • NM_001408447.1:c.2085_2092delTGTAGCAC
  • NM_001408448.1:c.2085_2092delTGTAGCAC
  • NM_001408450.1:c.2085_2092delTGTAGCAC
  • NM_001408451.1:c.2079_2086delTGTAGCAC
  • NM_001408452.1:c.2073_2080delTGTAGCAC
  • NM_001408453.1:c.2073_2080delTGTAGCAC
  • NM_001408454.1:c.2073_2080delTGTAGCAC
  • NM_001408455.1:c.2073_2080delTGTAGCAC
  • NM_001408456.1:c.2073_2080delTGTAGCAC
  • NM_001408457.1:c.2073_2080delTGTAGCAC
  • NM_001408458.1:c.2070_2077delTGTAGCAC
  • NM_001408459.1:c.2070_2077delTGTAGCAC
  • NM_001408460.1:c.2070_2077delTGTAGCAC
  • NM_001408461.1:c.2070_2077delTGTAGCAC
  • NM_001408462.1:c.2070_2077delTGTAGCAC
  • NM_001408463.1:c.2070_2077delTGTAGCAC
  • NM_001408464.1:c.2070_2077delTGTAGCAC
  • NM_001408465.1:c.2070_2077delTGTAGCAC
  • NM_001408466.1:c.2070_2077delTGTAGCAC
  • NM_001408467.1:c.2070_2077delTGTAGCAC
  • NM_001408468.1:c.2067_2074delTGTAGCAC
  • NM_001408469.1:c.2067_2074delTGTAGCAC
  • NM_001408470.1:c.2067_2074delTGTAGCAC
  • NM_001408472.1:c.*37_*44delTGTAGCAC
  • NM_001408473.1:c.*37_*44delTGTAGCAC
  • NM_001408474.1:c.2013_2020delTGTAGCAC
  • NM_001408475.1:c.2010_2017delTGTAGCAC
  • NM_001408476.1:c.2010_2017delTGTAGCAC
  • NM_001408478.1:c.2004_2011delTGTAGCAC
  • NM_001408479.1:c.2004_2011delTGTAGCAC
  • NM_001408480.1:c.2004_2011delTGTAGCAC
  • NM_001408481.1:c.2001_2008delTGTAGCAC
  • NM_001408482.1:c.2001_2008delTGTAGCAC
  • NM_001408483.1:c.2001_2008delTGTAGCAC
  • NM_001408484.1:c.2001_2008delTGTAGCAC
  • NM_001408485.1:c.2001_2008delTGTAGCAC
  • NM_001408489.1:c.2001_2008delTGTAGCAC
  • NM_001408490.1:c.2001_2008delTGTAGCAC
  • NM_001408491.1:c.2001_2008delTGTAGCAC
  • NM_001408492.1:c.1998_2005delTGTAGCAC
  • NM_001408493.1:c.1998_2005delTGTAGCAC
  • NM_001408494.1:c.1974_1981delTGTAGCAC
  • NM_001408495.1:c.1968_1975delTGTAGCAC
  • NM_001408496.1:c.1950_1957delTGTAGCAC
  • NM_001408497.1:c.1950_1957delTGTAGCAC
  • NM_001408498.1:c.1950_1957delTGTAGCAC
  • NM_001408499.1:c.1950_1957delTGTAGCAC
  • NM_001408500.1:c.1950_1957delTGTAGCAC
  • NM_001408501.1:c.1950_1957delTGTAGCAC
  • NM_001408502.1:c.1947_1954delTGTAGCAC
  • NM_001408503.1:c.1947_1954delTGTAGCAC
  • NM_001408504.1:c.1947_1954delTGTAGCAC
  • NM_001408505.1:c.1944_1951delTGTAGCAC
  • NM_001408506.1:c.1887_1894delTGTAGCAC
  • NM_001408507.1:c.1884_1891delTGTAGCAC
  • NM_001408508.1:c.1875_1882delTGTAGCAC
  • NM_001408509.1:c.1872_1879delTGTAGCAC
  • NM_001408510.1:c.1833_1840delTGTAGCAC
  • NM_001408511.1:c.1830_1837delTGTAGCAC
  • NM_001408512.1:c.1710_1717delTGTAGCAC
  • NM_001408513.1:c.1683_1690delTGTAGCAC
  • NM_001408514.1:c.1287_1294delTGTAGCAC
  • NM_007294.4:c.5524_5531delMANE SELECT
  • NM_007297.4:c.5383_5390del
  • NM_007298.4:c.2211_2218delTGTAGCAC
  • NM_007299.4:c.*38_*45del
  • NM_007300.4:c.5587_5594del
  • NM_007304.2:c.2211_2218delTGTAGCAC
  • NP_001394500.1:p.Val1771Leufs
  • NP_001394510.1:p.Val1864Leufs
  • NP_001394511.1:p.Val1864Leufs
  • NP_001394512.1:p.Val1863Leufs
  • NP_001394514.1:p.Val1863Leufs
  • NP_001394516.1:p.Val1863Leufs
  • NP_001394519.1:p.Val1862Leufs
  • NP_001394520.1:p.Val1862Leufs
  • NP_001394522.1:p.Val1842Leufs
  • NP_001394523.1:p.Val1842Leufs
  • NP_001394525.1:p.Val1842Leufs
  • NP_001394526.1:p.Val1842Leufs
  • NP_001394527.1:p.Val1842Leufs
  • NP_001394531.1:p.Val1842Leufs
  • NP_001394532.1:p.Val1842Leufs
  • NP_001394534.1:p.Val1842Leufs
  • NP_001394539.1:p.Val1841Leufs
  • NP_001394540.1:p.Val1841Leufs
  • NP_001394541.1:p.Val1841Leufs
  • NP_001394542.1:p.Val1841Leufs
  • NP_001394543.1:p.Val1841Leufs
  • NP_001394544.1:p.Val1841Leufs
  • NP_001394545.1:p.Val1841Leufs
  • NP_001394546.1:p.Val1841Leufs
  • NP_001394547.1:p.Val1841Leufs
  • NP_001394548.1:p.Val1841Leufs
  • NP_001394549.1:p.Val1841Leufs
  • NP_001394550.1:p.Val1841Leufs
  • NP_001394551.1:p.Val1841Leufs
  • NP_001394552.1:p.Val1841Leufs
  • NP_001394553.1:p.Val1841Leufs
  • NP_001394554.1:p.Val1841Leufs
  • NP_001394555.1:p.Val1841Leufs
  • NP_001394556.1:p.Val1840Leufs
  • NP_001394557.1:p.Val1840Leufs
  • NP_001394558.1:p.Val1840Leufs
  • NP_001394559.1:p.Val1840Leufs
  • NP_001394560.1:p.Val1840Leufs
  • NP_001394561.1:p.Val1840Leufs
  • NP_001394562.1:p.Val1840Leufs
  • NP_001394563.1:p.Val1840Leufs
  • NP_001394564.1:p.Val1840Leufs
  • NP_001394565.1:p.Val1840Leufs
  • NP_001394566.1:p.Val1840Leufs
  • NP_001394567.1:p.Val1840Leufs
  • NP_001394568.1:p.Val1840Leufs
  • NP_001394569.1:p.Val1840Leufs
  • NP_001394570.1:p.Val1840Leufs
  • NP_001394571.1:p.Val1840Leufs
  • NP_001394573.1:p.Val1839Leufs
  • NP_001394574.1:p.Val1839Leufs
  • NP_001394575.1:p.Val1838Leufs
  • NP_001394576.1:p.Val1837Leufs
  • NP_001394577.1:p.Val1823Leufs
  • NP_001394578.1:p.Val1822Leufs
  • NP_001394581.1:p.Val1816Leufs
  • NP_001394582.1:p.Val1816Leufs
  • NP_001394583.1:p.Val1816Leufs
  • NP_001394584.1:p.Val1816Leufs
  • NP_001394585.1:p.Val1815Leufs
  • NP_001394586.1:p.Val1815Leufs
  • NP_001394587.1:p.Val1815Leufs
  • NP_001394588.1:p.Val1814Leufs
  • NP_001394589.1:p.Val1814Leufs
  • NP_001394590.1:p.Val1814Leufs
  • NP_001394591.1:p.Val1814Leufs
  • NP_001394592.1:p.Val1814Leufs
  • NP_001394593.1:p.Val1801Leufs
  • NP_001394594.1:p.Val1801Leufs
  • NP_001394595.1:p.Val1801Leufs
  • NP_001394596.1:p.Val1801Leufs
  • NP_001394597.1:p.Val1801Leufs
  • NP_001394598.1:p.Val1801Leufs
  • NP_001394599.1:p.Val1800Leufs
  • NP_001394600.1:p.Val1800Leufs
  • NP_001394601.1:p.Val1800Leufs
  • NP_001394602.1:p.Val1800Leufs
  • NP_001394603.1:p.Val1800Leufs
  • NP_001394604.1:p.Val1800Leufs
  • NP_001394605.1:p.Val1800Leufs
  • NP_001394606.1:p.Val1800Leufs
  • NP_001394607.1:p.Val1800Leufs
  • NP_001394608.1:p.Val1800Leufs
  • NP_001394609.1:p.Val1800Leufs
  • NP_001394610.1:p.Val1799Leufs
  • NP_001394611.1:p.Val1799Leufs
  • NP_001394612.1:p.Val1799Leufs
  • NP_001394613.1:p.Val1799Leufs
  • NP_001394614.1:p.Val1799Leufs
  • NP_001394615.1:p.Val1799Leufs
  • NP_001394616.1:p.Val1799Leufs
  • NP_001394617.1:p.Val1799Leufs
  • NP_001394618.1:p.Val1799Leufs
  • NP_001394619.1:p.Val1798Leufs
  • NP_001394620.1:p.Val1798Leufs
  • NP_001394621.1:p.Val1795Leufs
  • NP_001394623.1:p.Val1795Leufs
  • NP_001394624.1:p.Val1795Leufs
  • NP_001394625.1:p.Val1795Leufs
  • NP_001394626.1:p.Val1795Leufs
  • NP_001394627.1:p.Val1795Leufs
  • NP_001394653.1:p.Val1795Leufs
  • NP_001394654.1:p.Val1795Leufs
  • NP_001394655.1:p.Val1795Leufs
  • NP_001394656.1:p.Val1795Leufs
  • NP_001394657.1:p.Val1795Leufs
  • NP_001394658.1:p.Val1795Leufs
  • NP_001394659.1:p.Val1795Leufs
  • NP_001394660.1:p.Val1795Leufs
  • NP_001394661.1:p.Val1794Leufs
  • NP_001394662.1:p.Val1794Leufs
  • NP_001394663.1:p.Val1794Leufs
  • NP_001394664.1:p.Val1794Leufs
  • NP_001394665.1:p.Val1794Leufs
  • NP_001394666.1:p.Val1794Leufs
  • NP_001394667.1:p.Val1794Leufs
  • NP_001394668.1:p.Val1794Leufs
  • NP_001394669.1:p.Val1794Leufs
  • NP_001394670.1:p.Val1794Leufs
  • NP_001394671.1:p.Val1794Leufs
  • NP_001394672.1:p.Val1794Leufs
  • NP_001394673.1:p.Val1794Leufs
  • NP_001394674.1:p.Val1794Leufs
  • NP_001394675.1:p.Val1794Leufs
  • NP_001394676.1:p.Val1794Leufs
  • NP_001394677.1:p.Val1794Leufs
  • NP_001394678.1:p.Val1794Leufs
  • NP_001394679.1:p.Val1794Leufs
  • NP_001394680.1:p.Val1794Leufs
  • NP_001394681.1:p.Val1794Leufs
  • NP_001394767.1:p.Val1793Leufs
  • NP_001394768.1:p.Val1793Leufs
  • NP_001394770.1:p.Val1793Leufs
  • NP_001394771.1:p.Val1793Leufs
  • NP_001394772.1:p.Val1793Leufs
  • NP_001394773.1:p.Val1793Leufs
  • NP_001394774.1:p.Val1793Leufs
  • NP_001394775.1:p.Val1793Leufs
  • NP_001394776.1:p.Val1793Leufs
  • NP_001394777.1:p.Val1793Leufs
  • NP_001394778.1:p.Val1793Leufs
  • NP_001394779.1:p.Val1793Leufs
  • NP_001394780.1:p.Val1793Leufs
  • NP_001394781.1:p.Val1793Leufs
  • NP_001394782.1:p.Val1793Leufs
  • NP_001394791.1:p.Val1775Leufs
  • NP_001394792.1:p.Val1774Leufs
  • NP_001394803.1:p.Val1773Leufs
  • NP_001394804.1:p.Val1773Leufs
  • NP_001394808.1:p.Val1772Leufs
  • NP_001394810.1:p.Val1772Leufs
  • NP_001394811.1:p.Val1772Leufs
  • NP_001394813.1:p.Val1772Leufs
  • NP_001394814.1:p.Val1772Leufs
  • NP_001394815.1:p.Val1772Leufs
  • NP_001394816.1:p.Val1772Leufs
  • NP_001394818.1:p.Val1772Leufs
  • NP_001394823.1:p.Val1771Leufs
  • NP_001394824.1:p.Val1771Leufs
  • NP_001394825.1:p.Val1771Leufs
  • NP_001394826.1:p.Val1771Leufs
  • NP_001394827.1:p.Val1771Leufs
  • NP_001394828.1:p.Val1771Leufs
  • NP_001394829.1:p.Val1771Leufs
  • NP_001394831.1:p.Val1771Leufs
  • NP_001394833.1:p.Val1771Leufs
  • NP_001394835.1:p.Val1771Leufs
  • NP_001394836.1:p.Val1771Leufs
  • NP_001394837.1:p.Val1771Leufs
  • NP_001394838.1:p.Val1771Leufs
  • NP_001394839.1:p.Val1771Leufs
  • NP_001394844.1:p.Val1770Leufs
  • NP_001394845.1:p.Val1770Leufs
  • NP_001394846.1:p.Val1770Leufs
  • NP_001394847.1:p.Val1770Leufs
  • NP_001394848.1:p.Val1758Leufs
  • NP_001394849.1:p.Val1754Leufs
  • NP_001394850.1:p.Val1754Leufs
  • NP_001394851.1:p.Val1754Leufs
  • NP_001394852.1:p.Val1754Leufs
  • NP_001394853.1:p.Val1754Leufs
  • NP_001394854.1:p.Val1754Leufs
  • NP_001394855.1:p.Val1754Leufs
  • NP_001394856.1:p.Val1753Leufs
  • NP_001394857.1:p.Val1753Leufs
  • NP_001394858.1:p.Val1753Leufs
  • NP_001394859.1:p.Val1753Leufs
  • NP_001394860.1:p.Val1753Leufs
  • NP_001394861.1:p.Val1753Leufs
  • NP_001394862.1:p.Val1753Leufs
  • NP_001394863.1:p.Val1752Leufs
  • NP_001394864.1:p.Val1752Leufs
  • NP_001394865.1:p.Val1752Leufs
  • NP_001394875.1:p.Val1731Leufs
  • NP_001394876.1:p.Val1731Leufs
  • NP_001394877.1:p.Val1731Leufs
  • NP_001394878.1:p.Val1731Leufs
  • NP_001394879.1:p.Val1730Leufs
  • NP_001394880.1:p.Val1730Leufs
  • NP_001394881.1:p.Val1730Leufs
  • NP_001394882.1:p.Val1730Leufs
  • NP_001394883.1:p.Val1730Leufs
  • NP_001394884.1:p.Val1730Leufs
  • NP_001394885.1:p.Val1729Leufs
  • NP_001394886.1:p.Val1729Leufs
  • NP_001394887.1:p.Val1729Leufs
  • NP_001394888.1:p.Val1715Leufs
  • NP_001394889.1:p.Val1714Leufs
  • NP_001394891.1:p.Val1714Leufs
  • NP_001394892.1:p.Val1713Leufs
  • NP_001394893.1:p.Val1688Leufs
  • NP_001394894.1:p.Val1673Leufs
  • NP_001394895.1:p.Val1546Leufs
  • NP_001394896.1:p.Val1545Leufs
  • NP_001394897.1:p.Val974Leufs
  • NP_001394898.1:p.Val973Leufs
  • NP_001394899.1:p.Val761Leufs
  • NP_001394900.1:p.Val761Leufs
  • NP_001394901.1:p.Val760Leufs
  • NP_001394902.1:p.Val739Leufs
  • NP_001394903.1:p.Val739Leufs
  • NP_001394904.1:p.Val739Leufs
  • NP_001394905.1:p.Val739Leufs
  • NP_001394906.1:p.Val739Leufs
  • NP_001394907.1:p.Val739Leufs
  • NP_001394908.1:p.Val738Leufs
  • NP_001394909.1:p.Val738Leufs
  • NP_001394910.1:p.Val738Leufs
  • NP_001394911.1:p.Val738Leufs
  • NP_001394912.1:p.Val738Leufs
  • NP_001394913.1:p.Val738Leufs
  • NP_001394914.1:p.Val738Leufs
  • NP_001394915.1:p.Val738Leufs
  • NP_001394919.1:p.Val738Leufs
  • NP_001394920.1:p.Val738Leufs
  • NP_001394921.1:p.Val738Leufs
  • NP_001394922.1:p.Val738Leufs
  • NP_001395321.1:p.Val737Leufs
  • NP_001395325.1:p.Val737Leufs
  • NP_001395326.1:p.Val737Leufs
  • NP_001395327.1:p.Val737Leufs
  • NP_001395328.1:p.Val737Leufs
  • NP_001395329.1:p.Val737Leufs
  • NP_001395330.1:p.Val737Leufs
  • NP_001395331.1:p.Val737Leufs
  • NP_001395332.1:p.Val737Leufs
  • NP_001395333.1:p.Val737Leufs
  • NP_001395335.1:p.Val736Leufs
  • NP_001395336.1:p.Val736Leufs
  • NP_001395337.1:p.Val736Leufs
  • NP_001395338.1:p.Val735Leufs
  • NP_001395339.1:p.Val714Leufs
  • NP_001395340.1:p.Val713Leufs
  • NP_001395341.1:p.Val712Leufs
  • NP_001395342.1:p.Val712Leufs
  • NP_001395343.1:p.Val712Leufs
  • NP_001395344.1:p.Val712Leufs
  • NP_001395345.1:p.Val712Leufs
  • NP_001395347.1:p.Val700Leufs
  • NP_001395348.1:p.Val700Leufs
  • NP_001395349.1:p.Val700Leufs
  • NP_001395350.1:p.Val699Leufs
  • NP_001395351.1:p.Val699Leufs
  • NP_001395352.1:p.Val699Leufs
  • NP_001395353.1:p.Val699Leufs
  • NP_001395354.1:p.Val698Leufs
  • NP_001395355.1:p.Val698Leufs
  • NP_001395356.1:p.Val698Leufs
  • NP_001395357.1:p.Val698Leufs
  • NP_001395358.1:p.Val698Leufs
  • NP_001395359.1:p.Val698Leufs
  • NP_001395360.1:p.Val698Leufs
  • NP_001395361.1:p.Val697Leufs
  • NP_001395362.1:p.Val697Leufs
  • NP_001395363.1:p.Val697Leufs
  • NP_001395364.1:p.Val697Leufs
  • NP_001395365.1:p.Val697Leufs
  • NP_001395366.1:p.Val697Leufs
  • NP_001395367.1:p.Val697Leufs
  • NP_001395368.1:p.Val697Leufs
  • NP_001395369.1:p.Val697Leufs
  • NP_001395370.1:p.Val697Leufs
  • NP_001395371.1:p.Val697Leufs
  • NP_001395372.1:p.Val697Leufs
  • NP_001395373.1:p.Val697Leufs
  • NP_001395374.1:p.Val696Leufs
  • NP_001395375.1:p.Val696Leufs
  • NP_001395376.1:p.Val696Leufs
  • NP_001395377.1:p.Val696Leufs
  • NP_001395379.1:p.Val696Leufs
  • NP_001395380.1:p.Val694Leufs
  • NP_001395381.1:p.Val692Leufs
  • NP_001395382.1:p.Val692Leufs
  • NP_001395383.1:p.Val692Leufs
  • NP_001395384.1:p.Val692Leufs
  • NP_001395385.1:p.Val692Leufs
  • NP_001395386.1:p.Val692Leufs
  • NP_001395387.1:p.Val691Leufs
  • NP_001395388.1:p.Val691Leufs
  • NP_001395389.1:p.Val691Leufs
  • NP_001395390.1:p.Val691Leufs
  • NP_001395391.1:p.Val691Leufs
  • NP_001395392.1:p.Val691Leufs
  • NP_001395393.1:p.Val691Leufs
  • NP_001395394.1:p.Val691Leufs
  • NP_001395395.1:p.Val691Leufs
  • NP_001395396.1:p.Val691Leufs
  • NP_001395397.1:p.Val690Leufs
  • NP_001395398.1:p.Val690Leufs
  • NP_001395399.1:p.Val690Leufs
  • NP_001395403.1:p.Val672Leufs
  • NP_001395404.1:p.Val671Leufs
  • NP_001395405.1:p.Val671Leufs
  • NP_001395407.1:p.Val669Leufs
  • NP_001395408.1:p.Val669Leufs
  • NP_001395409.1:p.Val669Leufs
  • NP_001395410.1:p.Val668Leufs
  • NP_001395411.1:p.Val668Leufs
  • NP_001395412.1:p.Val668Leufs
  • NP_001395413.1:p.Val668Leufs
  • NP_001395414.1:p.Val668Leufs
  • NP_001395418.1:p.Val668Leufs
  • NP_001395419.1:p.Val668Leufs
  • NP_001395420.1:p.Val668Leufs
  • NP_001395421.1:p.Val667Leufs
  • NP_001395422.1:p.Val667Leufs
  • NP_001395423.1:p.Val659Leufs
  • NP_001395424.1:p.Val657Leufs
  • NP_001395425.1:p.Val651Leufs
  • NP_001395426.1:p.Val651Leufs
  • NP_001395427.1:p.Val651Leufs
  • NP_001395428.1:p.Val651Leufs
  • NP_001395429.1:p.Val651Leufs
  • NP_001395430.1:p.Val651Leufs
  • NP_001395431.1:p.Val650Leufs
  • NP_001395432.1:p.Val650Leufs
  • NP_001395433.1:p.Val650Leufs
  • NP_001395434.1:p.Val649Leufs
  • NP_001395435.1:p.Val630Leufs
  • NP_001395436.1:p.Val629Leufs
  • NP_001395437.1:p.Val626Leufs
  • NP_001395438.1:p.Val625Leufs
  • NP_001395439.1:p.Val612Leufs
  • NP_001395440.1:p.Val611Leufs
  • NP_001395441.1:p.Val571Leufs
  • NP_001395442.1:p.Val562Leufs
  • NP_001395443.1:p.Val430Leufs
  • NP_009225.1:p.Val1842Leufs
  • NP_009225.1:p.Val1842fs
  • NP_009228.2:p.Val1795fs
  • NP_009229.2:p.Val738Leufs
  • NP_009229.2:p.Val738fs
  • NP_009231.2:p.Val1863fs
  • NP_009235.2:p.Val738Leufs
  • LRG_292t1:c.5523_5530del
  • LRG_292:g.172238_172245del
  • LRG_292p1:p.Val1842Leufs
  • NC_000017.10:g.41197756_41197763del
  • NC_000017.10:g.41197757_41197764del
  • NM_007294.3:c.5523_5530delTGTAGCAC
  • NM_007294.3:c.5524_5531delGTAGCACT
  • NM_007298.3:c.2212_2219del
  • NR_027676.2:n.5701_5708del
  • p.(Val1842LeufsTer35)
  • p.Val1842Leufs*35
Protein change:
V1795fs
Links:
dbSNP: rs879255287
NCBI 1000 Genomes Browser:
rs879255287
Molecular consequence:
  • NM_007299.4:c.*38_*45del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001407571.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5589_5596delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5589_5596delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5586_5593delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5586_5593delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5586_5593delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5583_5590delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5583_5590delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5523_5530delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5523_5530delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5523_5530delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5523_5530delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5523_5530delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5523_5530delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5523_5530delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5523_5530delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5520_5527delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5517_5524delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5514_5521delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5514_5521delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5511_5518delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5508_5515delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.5466_5473delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.5463_5470delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5445_5452delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.5445_5452delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.5445_5452delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.5445_5452delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.5442_5449delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.5442_5449delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.5442_5449delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.5439_5446delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.5439_5446delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.5439_5446delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.5439_5446delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.5439_5446delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.5400_5407delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.5400_5407delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.5400_5407delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.5400_5407delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.5400_5407delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.5400_5407delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.5397_5404delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.5397_5404delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.5397_5404delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.5397_5404delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.5397_5404delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.5397_5404delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.5397_5404delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.5397_5404delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.5397_5404delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.5397_5404delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.5397_5404delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.5394_5401delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.5394_5401delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.5394_5401delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.5394_5401delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.5394_5401delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.5394_5401delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.5394_5401delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.5394_5401delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.5394_5401delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.5391_5398delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.5391_5398delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.5382_5389delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.5379_5386delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.5376_5383delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.5322_5329delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.5319_5326delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.5316_5323delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.5316_5323delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.5313_5320delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.5313_5320delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.5313_5320delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.5313_5320delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.5313_5320delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.5313_5320delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.5313_5320delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.5313_5320delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.5310_5317delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.5307_5314delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.5307_5314delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.5307_5314delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.5307_5314delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.5271_5278delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.5259_5266delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.5259_5266delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.5259_5266delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.5259_5266delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.5259_5266delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.5259_5266delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.5259_5266delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.5256_5263delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.5256_5263delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.5256_5263delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.5256_5263delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.5256_5263delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.5256_5263delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.5256_5263delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.5253_5260delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.5253_5260delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.5253_5260delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.5190_5197delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.5190_5197delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.5190_5197delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.5190_5197delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.5187_5194delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.5187_5194delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.5187_5194delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.5187_5194delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.5187_5194delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.5187_5194delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.5184_5191delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.5184_5191delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.5184_5191delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.5142_5149delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.5139_5146delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.5139_5146delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.5136_5143delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.5061_5068delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.5016_5023delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4635_4642delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4632_4639delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2919_2926delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2916_2923delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.2280_2287delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.2280_2287delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.2277_2284delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.2214_2221delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.2214_2221delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.2214_2221delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.2214_2221delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.2214_2221delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.2214_2221delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.2208_2215delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.2208_2215delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.2208_2215delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.2208_2215delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.2208_2215delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.2208_2215delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.2208_2215delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.2208_2215delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.2208_2215delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.2208_2215delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.2205_2212delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.2205_2212delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.2205_2212delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.2202_2209delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.2139_2146delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.2136_2143delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.2133_2140delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.2133_2140delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.2133_2140delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.2133_2140delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.2133_2140delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.2097_2104delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.2097_2104delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.2097_2104delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.2094_2101delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.2094_2101delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.2094_2101delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.2094_2101delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.2091_2098delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.2091_2098delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.2091_2098delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.2091_2098delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.2091_2098delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.2091_2098delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.2091_2098delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.2088_2095delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.2088_2095delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.2088_2095delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.2088_2095delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.2088_2095delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.2088_2095delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.2088_2095delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.2088_2095delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.2088_2095delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.2088_2095delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.2088_2095delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.2088_2095delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.2088_2095delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.2085_2092delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.2085_2092delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.2085_2092delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.2085_2092delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.2085_2092delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.2079_2086delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.2073_2080delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.2073_2080delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.2073_2080delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.2073_2080delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.2073_2080delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.2073_2080delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.2070_2077delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.2070_2077delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.2070_2077delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.2070_2077delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.2070_2077delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.2070_2077delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.2070_2077delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.2070_2077delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.2070_2077delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.2070_2077delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.2067_2074delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.2067_2074delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.2067_2074delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.2013_2020delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.2010_2017delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.2010_2017delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.2004_2011delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.2004_2011delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.2004_2011delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.2001_2008delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.2001_2008delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.2001_2008delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.2001_2008delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.2001_2008delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.2001_2008delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.2001_2008delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.2001_2008delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1998_2005delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1998_2005delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1974_1981delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1968_1975delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1950_1957delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1950_1957delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1950_1957delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1950_1957delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1950_1957delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1950_1957delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1947_1954delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1947_1954delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1947_1954delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1944_1951delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1887_1894delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1884_1891delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1875_1882delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1872_1879delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1833_1840delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1830_1837delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1710_1717delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1683_1690delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.1287_1294delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5524_5531del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.5383_5390del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5587_5594del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.2211_2218delTGTAGCAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5701_5708del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003341839Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Apr 27, 2022) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

Friedman LS, Ostermeyer EA, Szabo CI, Dowd P, Lynch ED, Rowell SE, King MC.

Nat Genet. 1994 Dec;8(4):399-404.

PubMed [citation]
PMID:
7894493

Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation.

Hayes F, Cayanan C, Barillà D, Monteiro AN.

Cancer Res. 2000 May 1;60(9):2411-8.

PubMed [citation]
PMID:
10811118
PMCID:
PMC4893312
See all PubMed Citations (7)

Details of each submission

From Invitae, SCV003341839.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This sequence change results in a frameshift in the BRCA1 gene (p.Val1842Leufs*35). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acid(s) of the BRCA1 protein and extend the protein by 12 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 252389). This variant disrupts a region of the BRCA1 protein in which other variant(s) (p.Tyr1853*) have been determined to be pathogenic (PMID: 7894493, 10811118, 11739404, 20104584, 21922593, 24504028). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024