U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.4675+3A>G AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 12, 2017
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:
RCV000503121.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.4675+3A>G]

NM_007294.4(BRCA1):c.4675+3A>G

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4675+3A>G
HGVS:
  • NC_000017.11:g.43074328T>C
  • NG_005905.2:g.143656A>G
  • NM_001407571.1:c.4462+3A>G
  • NM_001407581.1:c.4741+3A>G
  • NM_001407582.1:c.4741+3A>G
  • NM_001407583.1:c.4738+3A>G
  • NM_001407585.1:c.4738+3A>G
  • NM_001407587.1:c.4738+3A>G
  • NM_001407590.1:c.4735+3A>G
  • NM_001407591.1:c.4735+3A>G
  • NM_001407593.1:c.4675+3A>G
  • NM_001407594.1:c.4675+3A>G
  • NM_001407596.1:c.4675+3A>G
  • NM_001407597.1:c.4675+3A>G
  • NM_001407598.1:c.4675+3A>G
  • NM_001407602.1:c.4675+3A>G
  • NM_001407603.1:c.4675+3A>G
  • NM_001407605.1:c.4675+3A>G
  • NM_001407610.1:c.4672+3A>G
  • NM_001407611.1:c.4672+3A>G
  • NM_001407612.1:c.4672+3A>G
  • NM_001407613.1:c.4672+3A>G
  • NM_001407614.1:c.4672+3A>G
  • NM_001407615.1:c.4672+3A>G
  • NM_001407616.1:c.4672+3A>G
  • NM_001407617.1:c.4672+3A>G
  • NM_001407618.1:c.4672+3A>G
  • NM_001407619.1:c.4672+3A>G
  • NM_001407620.1:c.4672+3A>G
  • NM_001407621.1:c.4672+3A>G
  • NM_001407622.1:c.4672+3A>G
  • NM_001407623.1:c.4672+3A>G
  • NM_001407624.1:c.4672+3A>G
  • NM_001407625.1:c.4672+3A>G
  • NM_001407626.1:c.4672+3A>G
  • NM_001407627.1:c.4669+3A>G
  • NM_001407628.1:c.4669+3A>G
  • NM_001407629.1:c.4669+3A>G
  • NM_001407630.1:c.4669+3A>G
  • NM_001407631.1:c.4669+3A>G
  • NM_001407632.1:c.4669+3A>G
  • NM_001407633.1:c.4669+3A>G
  • NM_001407634.1:c.4669+3A>G
  • NM_001407635.1:c.4669+3A>G
  • NM_001407636.1:c.4669+3A>G
  • NM_001407637.1:c.4669+3A>G
  • NM_001407638.1:c.4669+3A>G
  • NM_001407639.1:c.4669+3A>G
  • NM_001407640.1:c.4669+3A>G
  • NM_001407641.1:c.4669+3A>G
  • NM_001407642.1:c.4669+3A>G
  • NM_001407644.1:c.4666+3A>G
  • NM_001407645.1:c.4666+3A>G
  • NM_001407646.1:c.4663+3A>G
  • NM_001407647.1:c.4660+3A>G
  • NM_001407648.1:c.4618+3A>G
  • NM_001407649.1:c.4615+3A>G
  • NM_001407652.1:c.4675+3A>G
  • NM_001407653.1:c.4597+3A>G
  • NM_001407654.1:c.4597+3A>G
  • NM_001407655.1:c.4597+3A>G
  • NM_001407656.1:c.4594+3A>G
  • NM_001407657.1:c.4594+3A>G
  • NM_001407658.1:c.4594+3A>G
  • NM_001407659.1:c.4591+3A>G
  • NM_001407660.1:c.4591+3A>G
  • NM_001407661.1:c.4591+3A>G
  • NM_001407662.1:c.4591+3A>G
  • NM_001407663.1:c.4591+3A>G
  • NM_001407664.1:c.4552+3A>G
  • NM_001407665.1:c.4552+3A>G
  • NM_001407666.1:c.4552+3A>G
  • NM_001407667.1:c.4552+3A>G
  • NM_001407668.1:c.4552+3A>G
  • NM_001407669.1:c.4552+3A>G
  • NM_001407670.1:c.4549+3A>G
  • NM_001407671.1:c.4549+3A>G
  • NM_001407672.1:c.4549+3A>G
  • NM_001407673.1:c.4549+3A>G
  • NM_001407674.1:c.4549+3A>G
  • NM_001407675.1:c.4549+3A>G
  • NM_001407676.1:c.4549+3A>G
  • NM_001407677.1:c.4549+3A>G
  • NM_001407678.1:c.4549+3A>G
  • NM_001407679.1:c.4549+3A>G
  • NM_001407680.1:c.4549+3A>G
  • NM_001407681.1:c.4546+3A>G
  • NM_001407682.1:c.4546+3A>G
  • NM_001407683.1:c.4546+3A>G
  • NM_001407684.1:c.4675+3A>G
  • NM_001407685.1:c.4546+3A>G
  • NM_001407686.1:c.4546+3A>G
  • NM_001407687.1:c.4546+3A>G
  • NM_001407688.1:c.4546+3A>G
  • NM_001407689.1:c.4546+3A>G
  • NM_001407690.1:c.4543+3A>G
  • NM_001407691.1:c.4543+3A>G
  • NM_001407692.1:c.4534+3A>G
  • NM_001407694.1:c.4534+3A>G
  • NM_001407695.1:c.4534+3A>G
  • NM_001407696.1:c.4534+3A>G
  • NM_001407697.1:c.4534+3A>G
  • NM_001407698.1:c.4534+3A>G
  • NM_001407724.1:c.4534+3A>G
  • NM_001407725.1:c.4534+3A>G
  • NM_001407726.1:c.4534+3A>G
  • NM_001407727.1:c.4534+3A>G
  • NM_001407728.1:c.4534+3A>G
  • NM_001407729.1:c.4534+3A>G
  • NM_001407730.1:c.4534+3A>G
  • NM_001407731.1:c.4534+3A>G
  • NM_001407732.1:c.4531+3A>G
  • NM_001407733.1:c.4531+3A>G
  • NM_001407734.1:c.4531+3A>G
  • NM_001407735.1:c.4531+3A>G
  • NM_001407736.1:c.4531+3A>G
  • NM_001407737.1:c.4531+3A>G
  • NM_001407738.1:c.4531+3A>G
  • NM_001407739.1:c.4531+3A>G
  • NM_001407740.1:c.4531+3A>G
  • NM_001407741.1:c.4531+3A>G
  • NM_001407742.1:c.4531+3A>G
  • NM_001407743.1:c.4531+3A>G
  • NM_001407744.1:c.4531+3A>G
  • NM_001407745.1:c.4531+3A>G
  • NM_001407746.1:c.4531+3A>G
  • NM_001407747.1:c.4531+3A>G
  • NM_001407748.1:c.4531+3A>G
  • NM_001407749.1:c.4531+3A>G
  • NM_001407750.1:c.4531+3A>G
  • NM_001407751.1:c.4531+3A>G
  • NM_001407752.1:c.4531+3A>G
  • NM_001407838.1:c.4528+3A>G
  • NM_001407839.1:c.4528+3A>G
  • NM_001407841.1:c.4528+3A>G
  • NM_001407842.1:c.4528+3A>G
  • NM_001407843.1:c.4528+3A>G
  • NM_001407844.1:c.4528+3A>G
  • NM_001407845.1:c.4528+3A>G
  • NM_001407846.1:c.4528+3A>G
  • NM_001407847.1:c.4528+3A>G
  • NM_001407848.1:c.4528+3A>G
  • NM_001407849.1:c.4528+3A>G
  • NM_001407850.1:c.4528+3A>G
  • NM_001407851.1:c.4528+3A>G
  • NM_001407852.1:c.4528+3A>G
  • NM_001407853.1:c.4528+3A>G
  • NM_001407854.1:c.4675+3A>G
  • NM_001407858.1:c.4672+3A>G
  • NM_001407859.1:c.4672+3A>G
  • NM_001407860.1:c.4672+3A>G
  • NM_001407861.1:c.4669+3A>G
  • NM_001407862.1:c.4474+3A>G
  • NM_001407863.1:c.4549+3A>G
  • NM_001407874.1:c.4468+3A>G
  • NM_001407875.1:c.4468+3A>G
  • NM_001407879.1:c.4465+3A>G
  • NM_001407881.1:c.4465+3A>G
  • NM_001407882.1:c.4465+3A>G
  • NM_001407884.1:c.4465+3A>G
  • NM_001407885.1:c.4465+3A>G
  • NM_001407886.1:c.4465+3A>G
  • NM_001407887.1:c.4465+3A>G
  • NM_001407889.1:c.4465+3A>G
  • NM_001407894.1:c.4462+3A>G
  • NM_001407895.1:c.4462+3A>G
  • NM_001407896.1:c.4462+3A>G
  • NM_001407897.1:c.4462+3A>G
  • NM_001407898.1:c.4462+3A>G
  • NM_001407899.1:c.4462+3A>G
  • NM_001407900.1:c.4462+3A>G
  • NM_001407902.1:c.4462+3A>G
  • NM_001407904.1:c.4462+3A>G
  • NM_001407906.1:c.4462+3A>G
  • NM_001407907.1:c.4462+3A>G
  • NM_001407908.1:c.4462+3A>G
  • NM_001407909.1:c.4462+3A>G
  • NM_001407910.1:c.4462+3A>G
  • NM_001407915.1:c.4459+3A>G
  • NM_001407916.1:c.4459+3A>G
  • NM_001407917.1:c.4459+3A>G
  • NM_001407918.1:c.4459+3A>G
  • NM_001407919.1:c.4552+3A>G
  • NM_001407920.1:c.4411+3A>G
  • NM_001407921.1:c.4411+3A>G
  • NM_001407922.1:c.4411+3A>G
  • NM_001407923.1:c.4411+3A>G
  • NM_001407924.1:c.4411+3A>G
  • NM_001407925.1:c.4411+3A>G
  • NM_001407926.1:c.4411+3A>G
  • NM_001407927.1:c.4408+3A>G
  • NM_001407928.1:c.4408+3A>G
  • NM_001407929.1:c.4408+3A>G
  • NM_001407930.1:c.4408+3A>G
  • NM_001407931.1:c.4408+3A>G
  • NM_001407932.1:c.4408+3A>G
  • NM_001407933.1:c.4408+3A>G
  • NM_001407934.1:c.4405+3A>G
  • NM_001407935.1:c.4405+3A>G
  • NM_001407936.1:c.4405+3A>G
  • NM_001407937.1:c.4552+3A>G
  • NM_001407938.1:c.4552+3A>G
  • NM_001407939.1:c.4549+3A>G
  • NM_001407940.1:c.4549+3A>G
  • NM_001407941.1:c.4546+3A>G
  • NM_001407942.1:c.4534+3A>G
  • NM_001407943.1:c.4531+3A>G
  • NM_001407944.1:c.4531+3A>G
  • NM_001407945.1:c.4531+3A>G
  • NM_001407946.1:c.4342+3A>G
  • NM_001407947.1:c.4342+3A>G
  • NM_001407948.1:c.4342+3A>G
  • NM_001407949.1:c.4342+3A>G
  • NM_001407950.1:c.4339+3A>G
  • NM_001407951.1:c.4339+3A>G
  • NM_001407952.1:c.4339+3A>G
  • NM_001407953.1:c.4339+3A>G
  • NM_001407954.1:c.4339+3A>G
  • NM_001407955.1:c.4339+3A>G
  • NM_001407956.1:c.4336+3A>G
  • NM_001407957.1:c.4336+3A>G
  • NM_001407958.1:c.4336+3A>G
  • NM_001407959.1:c.4294+3A>G
  • NM_001407960.1:c.4291+3A>G
  • NM_001407962.1:c.4291+3A>G
  • NM_001407963.1:c.4288+3A>G
  • NM_001407964.1:c.4214-3090A>G
  • NM_001407965.1:c.4168+3A>G
  • NM_001407966.1:c.3787+3A>G
  • NM_001407967.1:c.3784+3A>G
  • NM_001407968.1:c.2071+3A>G
  • NM_001407969.1:c.2068+3A>G
  • NM_001407970.1:c.1432+3A>G
  • NM_001407971.1:c.1432+3A>G
  • NM_001407972.1:c.1429+3A>G
  • NM_001407973.1:c.1366+3A>G
  • NM_001407974.1:c.1366+3A>G
  • NM_001407975.1:c.1366+3A>G
  • NM_001407976.1:c.1366+3A>G
  • NM_001407977.1:c.1366+3A>G
  • NM_001407978.1:c.1366+3A>G
  • NM_001407979.1:c.1363+3A>G
  • NM_001407980.1:c.1363+3A>G
  • NM_001407981.1:c.1363+3A>G
  • NM_001407982.1:c.1363+3A>G
  • NM_001407983.1:c.1363+3A>G
  • NM_001407984.1:c.1363+3A>G
  • NM_001407985.1:c.1363+3A>G
  • NM_001407986.1:c.1363+3A>G
  • NM_001407990.1:c.1363+3A>G
  • NM_001407991.1:c.1363+3A>G
  • NM_001407992.1:c.1363+3A>G
  • NM_001407993.1:c.1363+3A>G
  • NM_001408392.1:c.1360+3A>G
  • NM_001408396.1:c.1360+3A>G
  • NM_001408397.1:c.1360+3A>G
  • NM_001408398.1:c.1360+3A>G
  • NM_001408399.1:c.1360+3A>G
  • NM_001408400.1:c.1360+3A>G
  • NM_001408401.1:c.1360+3A>G
  • NM_001408402.1:c.1360+3A>G
  • NM_001408403.1:c.1360+3A>G
  • NM_001408404.1:c.1360+3A>G
  • NM_001408406.1:c.1357+3A>G
  • NM_001408407.1:c.1357+3A>G
  • NM_001408408.1:c.1357+3A>G
  • NM_001408409.1:c.1354+3A>G
  • NM_001408410.1:c.1291+3A>G
  • NM_001408411.1:c.1288+3A>G
  • NM_001408412.1:c.1285+3A>G
  • NM_001408413.1:c.1285+3A>G
  • NM_001408414.1:c.1285+3A>G
  • NM_001408415.1:c.1285+3A>G
  • NM_001408416.1:c.1285+3A>G
  • NM_001408418.1:c.1249+3A>G
  • NM_001408419.1:c.1249+3A>G
  • NM_001408420.1:c.1249+3A>G
  • NM_001408421.1:c.1246+3A>G
  • NM_001408422.1:c.1246+3A>G
  • NM_001408423.1:c.1246+3A>G
  • NM_001408424.1:c.1246+3A>G
  • NM_001408425.1:c.1243+3A>G
  • NM_001408426.1:c.1243+3A>G
  • NM_001408427.1:c.1243+3A>G
  • NM_001408428.1:c.1243+3A>G
  • NM_001408429.1:c.1243+3A>G
  • NM_001408430.1:c.1243+3A>G
  • NM_001408431.1:c.1243+3A>G
  • NM_001408432.1:c.1240+3A>G
  • NM_001408433.1:c.1240+3A>G
  • NM_001408434.1:c.1240+3A>G
  • NM_001408435.1:c.1240+3A>G
  • NM_001408436.1:c.1240+3A>G
  • NM_001408437.1:c.1240+3A>G
  • NM_001408438.1:c.1240+3A>G
  • NM_001408439.1:c.1240+3A>G
  • NM_001408440.1:c.1240+3A>G
  • NM_001408441.1:c.1240+3A>G
  • NM_001408442.1:c.1240+3A>G
  • NM_001408443.1:c.1240+3A>G
  • NM_001408444.1:c.1240+3A>G
  • NM_001408445.1:c.1237+3A>G
  • NM_001408446.1:c.1237+3A>G
  • NM_001408447.1:c.1237+3A>G
  • NM_001408448.1:c.1237+3A>G
  • NM_001408450.1:c.1237+3A>G
  • NM_001408451.1:c.1231+3A>G
  • NM_001408452.1:c.1225+3A>G
  • NM_001408453.1:c.1225+3A>G
  • NM_001408454.1:c.1225+3A>G
  • NM_001408455.1:c.1225+3A>G
  • NM_001408456.1:c.1225+3A>G
  • NM_001408457.1:c.1225+3A>G
  • NM_001408458.1:c.1222+3A>G
  • NM_001408459.1:c.1222+3A>G
  • NM_001408460.1:c.1222+3A>G
  • NM_001408461.1:c.1222+3A>G
  • NM_001408462.1:c.1222+3A>G
  • NM_001408463.1:c.1222+3A>G
  • NM_001408464.1:c.1222+3A>G
  • NM_001408465.1:c.1222+3A>G
  • NM_001408466.1:c.1222+3A>G
  • NM_001408467.1:c.1222+3A>G
  • NM_001408468.1:c.1219+3A>G
  • NM_001408469.1:c.1219+3A>G
  • NM_001408470.1:c.1219+3A>G
  • NM_001408472.1:c.1363+3A>G
  • NM_001408473.1:c.1360+3A>G
  • NM_001408474.1:c.1165+3A>G
  • NM_001408475.1:c.1162+3A>G
  • NM_001408476.1:c.1162+3A>G
  • NM_001408478.1:c.1156+3A>G
  • NM_001408479.1:c.1156+3A>G
  • NM_001408480.1:c.1156+3A>G
  • NM_001408481.1:c.1153+3A>G
  • NM_001408482.1:c.1153+3A>G
  • NM_001408483.1:c.1153+3A>G
  • NM_001408484.1:c.1153+3A>G
  • NM_001408485.1:c.1153+3A>G
  • NM_001408489.1:c.1153+3A>G
  • NM_001408490.1:c.1153+3A>G
  • NM_001408491.1:c.1153+3A>G
  • NM_001408492.1:c.1150+3A>G
  • NM_001408493.1:c.1150+3A>G
  • NM_001408494.1:c.1126+3A>G
  • NM_001408495.1:c.1120+3A>G
  • NM_001408496.1:c.1102+3A>G
  • NM_001408497.1:c.1102+3A>G
  • NM_001408498.1:c.1102+3A>G
  • NM_001408499.1:c.1102+3A>G
  • NM_001408500.1:c.1102+3A>G
  • NM_001408501.1:c.1102+3A>G
  • NM_001408502.1:c.1099+3A>G
  • NM_001408503.1:c.1099+3A>G
  • NM_001408504.1:c.1099+3A>G
  • NM_001408505.1:c.1096+3A>G
  • NM_001408506.1:c.1039+3A>G
  • NM_001408507.1:c.1036+3A>G
  • NM_001408508.1:c.1027+3A>G
  • NM_001408509.1:c.1024+3A>G
  • NM_001408510.1:c.985+3A>G
  • NM_001408511.1:c.982+3A>G
  • NM_001408512.1:c.862+3A>G
  • NM_001408513.1:c.836-3090A>G
  • NM_001408514.1:c.838+8076A>G
  • NM_007294.4:c.4675+3A>GMANE SELECT
  • NM_007297.4:c.4534+3A>G
  • NM_007298.4:c.1363+3A>G
  • NM_007299.4:c.1363+3A>G
  • NM_007300.4:c.4738+3A>G
  • LRG_292t1:c.4675+3A>G
  • LRG_292:g.143656A>G
  • NC_000017.10:g.41226345T>C
  • NM_007294.3:c.4675+3A>G
Links:
dbSNP: rs80358082
NCBI 1000 Genomes Browser:
rs80358082
Molecular consequence:
  • NM_001407571.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.4741+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.4741+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.4738+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.4738+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.4738+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.4735+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.4735+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.4675+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.4675+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.4675+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.4675+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.4675+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.4675+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.4675+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.4675+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.4666+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.4666+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.4663+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.4660+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.4618+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.4615+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.4675+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.4597+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.4597+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.4597+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.4594+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.4594+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.4594+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.4591+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.4591+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.4591+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.4591+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.4591+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.4552+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.4552+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.4552+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.4552+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.4552+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.4552+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.4546+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.4546+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.4546+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.4675+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.4546+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.4546+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.4546+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.4546+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.4546+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.4543+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.4543+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.4528+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.4675+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.4672+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.4669+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.4474+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.4468+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.4468+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.4465+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.4465+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.4465+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.4465+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.4465+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.4465+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.4465+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.4465+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.4462+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.4459+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.4459+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.4459+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.4459+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.4552+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.4411+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.4411+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.4411+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.4411+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.4411+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.4411+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.4411+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.4408+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.4408+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.4408+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.4408+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.4408+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.4408+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.4408+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.4405+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.4405+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.4405+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.4552+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.4552+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.4549+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.4546+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.4531+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.4342+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.4342+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.4342+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.4342+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.4339+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.4339+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.4339+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.4339+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.4339+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.4339+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.4336+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.4336+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.4336+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.4294+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.4291+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.4291+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.4288+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.4214-3090A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.4168+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.3787+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.3784+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.2071+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.2068+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.1432+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.1432+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.1429+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.1366+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.1366+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.1366+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.1366+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.1366+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.1366+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.1360+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.1360+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.1360+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.1360+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.1360+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.1360+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.1360+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.1360+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.1360+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.1360+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.1357+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.1357+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.1357+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.1354+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.1291+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.1288+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.1285+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.1285+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.1285+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.1285+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.1285+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.1249+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.1249+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.1249+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.1246+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.1246+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.1246+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.1246+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.1243+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.1243+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.1243+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.1243+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.1243+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.1243+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.1243+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.1240+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.1240+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.1240+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.1240+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.1240+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.1240+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.1240+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.1240+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.1240+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.1240+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.1240+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.1240+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.1240+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.1237+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.1237+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.1237+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.1237+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.1237+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.1231+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.1225+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.1225+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.1225+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.1225+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.1225+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.1225+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.1222+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.1222+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.1222+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.1222+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.1222+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.1222+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.1222+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.1222+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.1222+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.1222+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.1219+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.1219+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.1219+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.1360+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.1165+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.1162+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.1162+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.1156+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.1156+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.1156+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.1153+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.1153+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.1153+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.1153+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.1153+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.1153+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.1153+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.1153+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.1150+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.1150+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.1126+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.1120+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.1102+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.1102+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.1102+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.1102+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.1102+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.1102+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.1099+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.1099+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.1099+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.1096+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.1039+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.1036+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.1027+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.1024+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.985+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.982+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.862+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.836-3090A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.838+8076A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.4675+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.4534+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.1363+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.4738+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000918708Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Sep 12, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918708.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: The BRCA1 c.4675+3A>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 121176 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS), until additional information becomes available.

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

Last Updated: Sep 29, 2024