NM_007294.4(BRCA1):c.3619A>T (p.Lys1207Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000112136.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.3619A>T (p.Lys1207Ter)]

NM_007294.4(BRCA1):c.3619A>T (p.Lys1207Ter)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3619A>T (p.Lys1207Ter)

HGVS:

NC_000017.11:g.43091912T>A
NG_005905.2:g.126072A>T
NG_087068.1:g.894T>A
NM_001407571.1:c.3406A>T
NM_001407581.1:c.3619A>T
NM_001407582.1:c.3619A>T
NM_001407583.1:c.3619A>T
NM_001407585.1:c.3619A>T
NM_001407587.1:c.3616A>T
NM_001407590.1:c.3616A>T
NM_001407591.1:c.3616A>T
NM_001407593.1:c.3619A>T
NM_001407594.1:c.3619A>T
NM_001407596.1:c.3619A>T
NM_001407597.1:c.3619A>T
NM_001407598.1:c.3619A>T
NM_001407602.1:c.3619A>T
NM_001407603.1:c.3619A>T
NM_001407605.1:c.3619A>T
NM_001407610.1:c.3616A>T
NM_001407611.1:c.3616A>T
NM_001407612.1:c.3616A>T
NM_001407613.1:c.3616A>T
NM_001407614.1:c.3616A>T
NM_001407615.1:c.3616A>T
NM_001407616.1:c.3619A>T
NM_001407617.1:c.3619A>T
NM_001407618.1:c.3619A>T
NM_001407619.1:c.3619A>T
NM_001407620.1:c.3619A>T
NM_001407621.1:c.3619A>T
NM_001407622.1:c.3619A>T
NM_001407623.1:c.3619A>T
NM_001407624.1:c.3619A>T
NM_001407625.1:c.3619A>T
NM_001407626.1:c.3619A>T
NM_001407627.1:c.3616A>T
NM_001407628.1:c.3616A>T
NM_001407629.1:c.3616A>T
NM_001407630.1:c.3616A>T
NM_001407631.1:c.3616A>T
NM_001407632.1:c.3616A>T
NM_001407633.1:c.3616A>T
NM_001407634.1:c.3616A>T
NM_001407635.1:c.3616A>T
NM_001407636.1:c.3616A>T
NM_001407637.1:c.3616A>T
NM_001407638.1:c.3616A>T
NM_001407639.1:c.3619A>T
NM_001407640.1:c.3619A>T
NM_001407641.1:c.3619A>T
NM_001407642.1:c.3619A>T
NM_001407644.1:c.3616A>T
NM_001407645.1:c.3616A>T
NM_001407646.1:c.3610A>T
NM_001407647.1:c.3610A>T
NM_001407648.1:c.3496A>T
NM_001407649.1:c.3493A>T
NM_001407652.1:c.3619A>T
NM_001407653.1:c.3541A>T
NM_001407654.1:c.3541A>T
NM_001407655.1:c.3541A>T
NM_001407656.1:c.3541A>T
NM_001407657.1:c.3541A>T
NM_001407658.1:c.3541A>T
NM_001407659.1:c.3538A>T
NM_001407660.1:c.3538A>T
NM_001407661.1:c.3538A>T
NM_001407662.1:c.3538A>T
NM_001407663.1:c.3541A>T
NM_001407664.1:c.3496A>T
NM_001407665.1:c.3496A>T
NM_001407666.1:c.3496A>T
NM_001407667.1:c.3496A>T
NM_001407668.1:c.3496A>T
NM_001407669.1:c.3496A>T
NM_001407670.1:c.3493A>T
NM_001407671.1:c.3493A>T
NM_001407672.1:c.3493A>T
NM_001407673.1:c.3493A>T
NM_001407674.1:c.3496A>T
NM_001407675.1:c.3496A>T
NM_001407676.1:c.3496A>T
NM_001407677.1:c.3496A>T
NM_001407678.1:c.3496A>T
NM_001407679.1:c.3496A>T
NM_001407680.1:c.3496A>T
NM_001407681.1:c.3496A>T
NM_001407682.1:c.3496A>T
NM_001407683.1:c.3496A>T
NM_001407684.1:c.3619A>T
NM_001407685.1:c.3493A>T
NM_001407686.1:c.3493A>T
NM_001407687.1:c.3493A>T
NM_001407688.1:c.3493A>T
NM_001407689.1:c.3493A>T
NM_001407690.1:c.3493A>T
NM_001407691.1:c.3493A>T
NM_001407692.1:c.3478A>T
NM_001407694.1:c.3478A>T
NM_001407695.1:c.3478A>T
NM_001407696.1:c.3478A>T
NM_001407697.1:c.3478A>T
NM_001407698.1:c.3478A>T
NM_001407724.1:c.3478A>T
NM_001407725.1:c.3478A>T
NM_001407726.1:c.3478A>T
NM_001407727.1:c.3478A>T
NM_001407728.1:c.3478A>T
NM_001407729.1:c.3478A>T
NM_001407730.1:c.3478A>T
NM_001407731.1:c.3478A>T
NM_001407732.1:c.3478A>T
NM_001407733.1:c.3478A>T
NM_001407734.1:c.3478A>T
NM_001407735.1:c.3478A>T
NM_001407736.1:c.3478A>T
NM_001407737.1:c.3478A>T
NM_001407738.1:c.3478A>T
NM_001407739.1:c.3478A>T
NM_001407740.1:c.3475A>T
NM_001407741.1:c.3475A>T
NM_001407742.1:c.3475A>T
NM_001407743.1:c.3475A>T
NM_001407744.1:c.3475A>T
NM_001407745.1:c.3475A>T
NM_001407746.1:c.3475A>T
NM_001407747.1:c.3475A>T
NM_001407748.1:c.3475A>T
NM_001407749.1:c.3475A>T
NM_001407750.1:c.3478A>T
NM_001407751.1:c.3478A>T
NM_001407752.1:c.3478A>T
NM_001407838.1:c.3475A>T
NM_001407839.1:c.3475A>T
NM_001407841.1:c.3475A>T
NM_001407842.1:c.3475A>T
NM_001407843.1:c.3475A>T
NM_001407844.1:c.3475A>T
NM_001407845.1:c.3475A>T
NM_001407846.1:c.3475A>T
NM_001407847.1:c.3475A>T
NM_001407848.1:c.3475A>T
NM_001407849.1:c.3475A>T
NM_001407850.1:c.3478A>T
NM_001407851.1:c.3478A>T
NM_001407852.1:c.3478A>T
NM_001407853.1:c.3406A>T
NM_001407854.1:c.3619A>T
NM_001407858.1:c.3619A>T
NM_001407859.1:c.3619A>T
NM_001407860.1:c.3616A>T
NM_001407861.1:c.3616A>T
NM_001407862.1:c.3418A>T
NM_001407863.1:c.3496A>T
NM_001407874.1:c.3415A>T
NM_001407875.1:c.3415A>T
NM_001407879.1:c.3409A>T
NM_001407881.1:c.3409A>T
NM_001407882.1:c.3409A>T
NM_001407884.1:c.3409A>T
NM_001407885.1:c.3409A>T
NM_001407886.1:c.3409A>T
NM_001407887.1:c.3409A>T
NM_001407889.1:c.3409A>T
NM_001407894.1:c.3406A>T
NM_001407895.1:c.3406A>T
NM_001407896.1:c.3406A>T
NM_001407897.1:c.3406A>T
NM_001407898.1:c.3406A>T
NM_001407899.1:c.3406A>T
NM_001407900.1:c.3409A>T
NM_001407902.1:c.3409A>T
NM_001407904.1:c.3409A>T
NM_001407906.1:c.3409A>T
NM_001407907.1:c.3409A>T
NM_001407908.1:c.3409A>T
NM_001407909.1:c.3409A>T
NM_001407910.1:c.3409A>T
NM_001407915.1:c.3406A>T
NM_001407916.1:c.3406A>T
NM_001407917.1:c.3406A>T
NM_001407918.1:c.3406A>T
NM_001407919.1:c.3496A>T
NM_001407920.1:c.3355A>T
NM_001407921.1:c.3355A>T
NM_001407922.1:c.3355A>T
NM_001407923.1:c.3355A>T
NM_001407924.1:c.3355A>T
NM_001407925.1:c.3355A>T
NM_001407926.1:c.3355A>T
NM_001407927.1:c.3355A>T
NM_001407928.1:c.3355A>T
NM_001407929.1:c.3355A>T
NM_001407930.1:c.3352A>T
NM_001407931.1:c.3352A>T
NM_001407932.1:c.3352A>T
NM_001407933.1:c.3355A>T
NM_001407934.1:c.3352A>T
NM_001407935.1:c.3355A>T
NM_001407936.1:c.3352A>T
NM_001407937.1:c.3496A>T
NM_001407938.1:c.3496A>T
NM_001407939.1:c.3496A>T
NM_001407940.1:c.3493A>T
NM_001407941.1:c.3493A>T
NM_001407942.1:c.3478A>T
NM_001407943.1:c.3475A>T
NM_001407944.1:c.3478A>T
NM_001407945.1:c.3478A>T
NM_001407946.1:c.3286A>T
NM_001407947.1:c.3286A>T
NM_001407948.1:c.3286A>T
NM_001407949.1:c.3286A>T
NM_001407950.1:c.3286A>T
NM_001407951.1:c.3286A>T
NM_001407952.1:c.3286A>T
NM_001407953.1:c.3286A>T
NM_001407954.1:c.3283A>T
NM_001407955.1:c.3283A>T
NM_001407956.1:c.3283A>T
NM_001407957.1:c.3286A>T
NM_001407958.1:c.3283A>T
NM_001407959.1:c.3238A>T
NM_001407960.1:c.3238A>T
NM_001407962.1:c.3235A>T
NM_001407963.1:c.3238A>T
NM_001407964.1:c.3475A>T
NM_001407965.1:c.3115A>T
NM_001407966.1:c.2731A>T
NM_001407967.1:c.2731A>T
NM_001407968.1:c.1015A>T
NM_001407969.1:c.1015A>T
NM_001407970.1:c.788-880A>T
NM_001407971.1:c.788-880A>T
NM_001407972.1:c.785-880A>T
NM_001407973.1:c.788-880A>T
NM_001407974.1:c.788-880A>T
NM_001407975.1:c.788-880A>T
NM_001407976.1:c.788-880A>T
NM_001407977.1:c.788-880A>T
NM_001407978.1:c.788-880A>T
NM_001407979.1:c.788-880A>T
NM_001407980.1:c.788-880A>T
NM_001407981.1:c.788-880A>T
NM_001407982.1:c.788-880A>T
NM_001407983.1:c.788-880A>T
NM_001407984.1:c.785-880A>T
NM_001407985.1:c.785-880A>T
NM_001407986.1:c.785-880A>T
NM_001407990.1:c.788-880A>T
NM_001407991.1:c.785-880A>T
NM_001407992.1:c.785-880A>T
NM_001407993.1:c.788-880A>T
NM_001408392.1:c.785-880A>T
NM_001408396.1:c.785-880A>T
NM_001408397.1:c.785-880A>T
NM_001408398.1:c.785-880A>T
NM_001408399.1:c.785-880A>T
NM_001408400.1:c.785-880A>T
NM_001408401.1:c.785-880A>T
NM_001408402.1:c.785-880A>T
NM_001408403.1:c.788-880A>T
NM_001408404.1:c.788-880A>T
NM_001408406.1:c.791-889A>T
NM_001408407.1:c.785-880A>T
NM_001408408.1:c.779-880A>T
NM_001408409.1:c.710-880A>T
NM_001408410.1:c.647-880A>T
NM_001408411.1:c.710-880A>T
NM_001408412.1:c.710-880A>T
NM_001408413.1:c.707-880A>T
NM_001408414.1:c.710-880A>T
NM_001408415.1:c.710-880A>T
NM_001408416.1:c.707-880A>T
NM_001408418.1:c.671-880A>T
NM_001408419.1:c.671-880A>T
NM_001408420.1:c.671-880A>T
NM_001408421.1:c.668-880A>T
NM_001408422.1:c.671-880A>T
NM_001408423.1:c.671-880A>T
NM_001408424.1:c.668-880A>T
NM_001408425.1:c.665-880A>T
NM_001408426.1:c.665-880A>T
NM_001408427.1:c.665-880A>T
NM_001408428.1:c.665-880A>T
NM_001408429.1:c.665-880A>T
NM_001408430.1:c.665-880A>T
NM_001408431.1:c.668-880A>T
NM_001408432.1:c.662-880A>T
NM_001408433.1:c.662-880A>T
NM_001408434.1:c.662-880A>T
NM_001408435.1:c.662-880A>T
NM_001408436.1:c.665-880A>T
NM_001408437.1:c.665-880A>T
NM_001408438.1:c.665-880A>T
NM_001408439.1:c.665-880A>T
NM_001408440.1:c.665-880A>T
NM_001408441.1:c.665-880A>T
NM_001408442.1:c.665-880A>T
NM_001408443.1:c.665-880A>T
NM_001408444.1:c.665-880A>T
NM_001408445.1:c.662-880A>T
NM_001408446.1:c.662-880A>T
NM_001408447.1:c.662-880A>T
NM_001408448.1:c.662-880A>T
NM_001408450.1:c.662-880A>T
NM_001408451.1:c.653-880A>T
NM_001408452.1:c.647-880A>T
NM_001408453.1:c.647-880A>T
NM_001408454.1:c.647-880A>T
NM_001408455.1:c.647-880A>T
NM_001408456.1:c.647-880A>T
NM_001408457.1:c.647-880A>T
NM_001408458.1:c.647-880A>T
NM_001408459.1:c.647-880A>T
NM_001408460.1:c.647-880A>T
NM_001408461.1:c.647-880A>T
NM_001408462.1:c.644-880A>T
NM_001408463.1:c.644-880A>T
NM_001408464.1:c.644-880A>T
NM_001408465.1:c.644-880A>T
NM_001408466.1:c.647-880A>T
NM_001408467.1:c.647-880A>T
NM_001408468.1:c.644-880A>T
NM_001408469.1:c.647-880A>T
NM_001408470.1:c.644-880A>T
NM_001408472.1:c.788-880A>T
NM_001408473.1:c.785-880A>T
NM_001408474.1:c.587-880A>T
NM_001408475.1:c.584-880A>T
NM_001408476.1:c.587-880A>T
NM_001408478.1:c.578-880A>T
NM_001408479.1:c.578-880A>T
NM_001408480.1:c.578-880A>T
NM_001408481.1:c.578-880A>T
NM_001408482.1:c.578-880A>T
NM_001408483.1:c.578-880A>T
NM_001408484.1:c.578-880A>T
NM_001408485.1:c.578-880A>T
NM_001408489.1:c.578-880A>T
NM_001408490.1:c.575-880A>T
NM_001408491.1:c.575-880A>T
NM_001408492.1:c.578-880A>T
NM_001408493.1:c.575-880A>T
NM_001408494.1:c.548-880A>T
NM_001408495.1:c.545-880A>T
NM_001408496.1:c.524-880A>T
NM_001408497.1:c.524-880A>T
NM_001408498.1:c.524-880A>T
NM_001408499.1:c.524-880A>T
NM_001408500.1:c.524-880A>T
NM_001408501.1:c.524-880A>T
NM_001408502.1:c.455-880A>T
NM_001408503.1:c.521-880A>T
NM_001408504.1:c.521-880A>T
NM_001408505.1:c.521-880A>T
NM_001408506.1:c.461-880A>T
NM_001408507.1:c.461-880A>T
NM_001408508.1:c.452-880A>T
NM_001408509.1:c.452-880A>T
NM_001408510.1:c.407-880A>T
NM_001408511.1:c.404-880A>T
NM_001408512.1:c.284-880A>T
NM_001408513.1:c.578-880A>T
NM_001408514.1:c.578-880A>T
NM_007294.4:c.3619A>TMANE SELECT
NM_007297.4:c.3478A>T
NM_007298.4:c.788-880A>T
NM_007299.4:c.788-880A>T
NM_007300.4:c.3619A>T
NP_001394500.1:p.Lys1136Ter
NP_001394510.1:p.Lys1207Ter
NP_001394511.1:p.Lys1207Ter
NP_001394512.1:p.Lys1207Ter
NP_001394514.1:p.Lys1207Ter
NP_001394516.1:p.Lys1206Ter
NP_001394519.1:p.Lys1206Ter
NP_001394520.1:p.Lys1206Ter
NP_001394522.1:p.Lys1207Ter
NP_001394523.1:p.Lys1207Ter
NP_001394525.1:p.Lys1207Ter
NP_001394526.1:p.Lys1207Ter
NP_001394527.1:p.Lys1207Ter
NP_001394531.1:p.Lys1207Ter
NP_001394532.1:p.Lys1207Ter
NP_001394534.1:p.Lys1207Ter
NP_001394539.1:p.Lys1206Ter
NP_001394540.1:p.Lys1206Ter
NP_001394541.1:p.Lys1206Ter
NP_001394542.1:p.Lys1206Ter
NP_001394543.1:p.Lys1206Ter
NP_001394544.1:p.Lys1206Ter
NP_001394545.1:p.Lys1207Ter
NP_001394546.1:p.Lys1207Ter
NP_001394547.1:p.Lys1207Ter
NP_001394548.1:p.Lys1207Ter
NP_001394549.1:p.Lys1207Ter
NP_001394550.1:p.Lys1207Ter
NP_001394551.1:p.Lys1207Ter
NP_001394552.1:p.Lys1207Ter
NP_001394553.1:p.Lys1207Ter
NP_001394554.1:p.Lys1207Ter
NP_001394555.1:p.Lys1207Ter
NP_001394556.1:p.Lys1206Ter
NP_001394557.1:p.Lys1206Ter
NP_001394558.1:p.Lys1206Ter
NP_001394559.1:p.Lys1206Ter
NP_001394560.1:p.Lys1206Ter
NP_001394561.1:p.Lys1206Ter
NP_001394562.1:p.Lys1206Ter
NP_001394563.1:p.Lys1206Ter
NP_001394564.1:p.Lys1206Ter
NP_001394565.1:p.Lys1206Ter
NP_001394566.1:p.Lys1206Ter
NP_001394567.1:p.Lys1206Ter
NP_001394568.1:p.Lys1207Ter
NP_001394569.1:p.Lys1207Ter
NP_001394570.1:p.Lys1207Ter
NP_001394571.1:p.Lys1207Ter
NP_001394573.1:p.Lys1206Ter
NP_001394574.1:p.Lys1206Ter
NP_001394575.1:p.Lys1204Ter
NP_001394576.1:p.Lys1204Ter
NP_001394577.1:p.Lys1166Ter
NP_001394578.1:p.Lys1165Ter
NP_001394581.1:p.Lys1207Ter
NP_001394582.1:p.Lys1181Ter
NP_001394583.1:p.Lys1181Ter
NP_001394584.1:p.Lys1181Ter
NP_001394585.1:p.Lys1181Ter
NP_001394586.1:p.Lys1181Ter
NP_001394587.1:p.Lys1181Ter
NP_001394588.1:p.Lys1180Ter
NP_001394589.1:p.Lys1180Ter
NP_001394590.1:p.Lys1180Ter
NP_001394591.1:p.Lys1180Ter
NP_001394592.1:p.Lys1181Ter
NP_001394593.1:p.Lys1166Ter
NP_001394594.1:p.Lys1166Ter
NP_001394595.1:p.Lys1166Ter
NP_001394596.1:p.Lys1166Ter
NP_001394597.1:p.Lys1166Ter
NP_001394598.1:p.Lys1166Ter
NP_001394599.1:p.Lys1165Ter
NP_001394600.1:p.Lys1165Ter
NP_001394601.1:p.Lys1165Ter
NP_001394602.1:p.Lys1165Ter
NP_001394603.1:p.Lys1166Ter
NP_001394604.1:p.Lys1166Ter
NP_001394605.1:p.Lys1166Ter
NP_001394606.1:p.Lys1166Ter
NP_001394607.1:p.Lys1166Ter
NP_001394608.1:p.Lys1166Ter
NP_001394609.1:p.Lys1166Ter
NP_001394610.1:p.Lys1166Ter
NP_001394611.1:p.Lys1166Ter
NP_001394612.1:p.Lys1166Ter
NP_001394613.1:p.Lys1207Ter
NP_001394614.1:p.Lys1165Ter
NP_001394615.1:p.Lys1165Ter
NP_001394616.1:p.Lys1165Ter
NP_001394617.1:p.Lys1165Ter
NP_001394618.1:p.Lys1165Ter
NP_001394619.1:p.Lys1165Ter
NP_001394620.1:p.Lys1165Ter
NP_001394621.1:p.Lys1160Ter
NP_001394623.1:p.Lys1160Ter
NP_001394624.1:p.Lys1160Ter
NP_001394625.1:p.Lys1160Ter
NP_001394626.1:p.Lys1160Ter
NP_001394627.1:p.Lys1160Ter
NP_001394653.1:p.Lys1160Ter
NP_001394654.1:p.Lys1160Ter
NP_001394655.1:p.Lys1160Ter
NP_001394656.1:p.Lys1160Ter
NP_001394657.1:p.Lys1160Ter
NP_001394658.1:p.Lys1160Ter
NP_001394659.1:p.Lys1160Ter
NP_001394660.1:p.Lys1160Ter
NP_001394661.1:p.Lys1160Ter
NP_001394662.1:p.Lys1160Ter
NP_001394663.1:p.Lys1160Ter
NP_001394664.1:p.Lys1160Ter
NP_001394665.1:p.Lys1160Ter
NP_001394666.1:p.Lys1160Ter
NP_001394667.1:p.Lys1160Ter
NP_001394668.1:p.Lys1160Ter
NP_001394669.1:p.Lys1159Ter
NP_001394670.1:p.Lys1159Ter
NP_001394671.1:p.Lys1159Ter
NP_001394672.1:p.Lys1159Ter
NP_001394673.1:p.Lys1159Ter
NP_001394674.1:p.Lys1159Ter
NP_001394675.1:p.Lys1159Ter
NP_001394676.1:p.Lys1159Ter
NP_001394677.1:p.Lys1159Ter
NP_001394678.1:p.Lys1159Ter
NP_001394679.1:p.Lys1160Ter
NP_001394680.1:p.Lys1160Ter
NP_001394681.1:p.Lys1160Ter
NP_001394767.1:p.Lys1159Ter
NP_001394768.1:p.Lys1159Ter
NP_001394770.1:p.Lys1159Ter
NP_001394771.1:p.Lys1159Ter
NP_001394772.1:p.Lys1159Ter
NP_001394773.1:p.Lys1159Ter
NP_001394774.1:p.Lys1159Ter
NP_001394775.1:p.Lys1159Ter
NP_001394776.1:p.Lys1159Ter
NP_001394777.1:p.Lys1159Ter
NP_001394778.1:p.Lys1159Ter
NP_001394779.1:p.Lys1160Ter
NP_001394780.1:p.Lys1160Ter
NP_001394781.1:p.Lys1160Ter
NP_001394782.1:p.Lys1136Ter
NP_001394783.1:p.Lys1207Ter
NP_001394787.1:p.Lys1207Ter
NP_001394788.1:p.Lys1207Ter
NP_001394789.1:p.Lys1206Ter
NP_001394790.1:p.Lys1206Ter
NP_001394791.1:p.Lys1140Ter
NP_001394792.1:p.Lys1166Ter
NP_001394803.1:p.Lys1139Ter
NP_001394804.1:p.Lys1139Ter
NP_001394808.1:p.Lys1137Ter
NP_001394810.1:p.Lys1137Ter
NP_001394811.1:p.Lys1137Ter
NP_001394813.1:p.Lys1137Ter
NP_001394814.1:p.Lys1137Ter
NP_001394815.1:p.Lys1137Ter
NP_001394816.1:p.Lys1137Ter
NP_001394818.1:p.Lys1137Ter
NP_001394823.1:p.Lys1136Ter
NP_001394824.1:p.Lys1136Ter
NP_001394825.1:p.Lys1136Ter
NP_001394826.1:p.Lys1136Ter
NP_001394827.1:p.Lys1136Ter
NP_001394828.1:p.Lys1136Ter
NP_001394829.1:p.Lys1137Ter
NP_001394831.1:p.Lys1137Ter
NP_001394833.1:p.Lys1137Ter
NP_001394835.1:p.Lys1137Ter
NP_001394836.1:p.Lys1137Ter
NP_001394837.1:p.Lys1137Ter
NP_001394838.1:p.Lys1137Ter
NP_001394839.1:p.Lys1137Ter
NP_001394844.1:p.Lys1136Ter
NP_001394845.1:p.Lys1136Ter
NP_001394846.1:p.Lys1136Ter
NP_001394847.1:p.Lys1136Ter
NP_001394848.1:p.Lys1166Ter
NP_001394849.1:p.Lys1119Ter
NP_001394850.1:p.Lys1119Ter
NP_001394851.1:p.Lys1119Ter
NP_001394852.1:p.Lys1119Ter
NP_001394853.1:p.Lys1119Ter
NP_001394854.1:p.Lys1119Ter
NP_001394855.1:p.Lys1119Ter
NP_001394856.1:p.Lys1119Ter
NP_001394857.1:p.Lys1119Ter
NP_001394858.1:p.Lys1119Ter
NP_001394859.1:p.Lys1118Ter
NP_001394860.1:p.Lys1118Ter
NP_001394861.1:p.Lys1118Ter
NP_001394862.1:p.Lys1119Ter
NP_001394863.1:p.Lys1118Ter
NP_001394864.1:p.Lys1119Ter
NP_001394865.1:p.Lys1118Ter
NP_001394866.1:p.Lys1166Ter
NP_001394867.1:p.Lys1166Ter
NP_001394868.1:p.Lys1166Ter
NP_001394869.1:p.Lys1165Ter
NP_001394870.1:p.Lys1165Ter
NP_001394871.1:p.Lys1160Ter
NP_001394872.1:p.Lys1159Ter
NP_001394873.1:p.Lys1160Ter
NP_001394874.1:p.Lys1160Ter
NP_001394875.1:p.Lys1096Ter
NP_001394876.1:p.Lys1096Ter
NP_001394877.1:p.Lys1096Ter
NP_001394878.1:p.Lys1096Ter
NP_001394879.1:p.Lys1096Ter
NP_001394880.1:p.Lys1096Ter
NP_001394881.1:p.Lys1096Ter
NP_001394882.1:p.Lys1096Ter
NP_001394883.1:p.Lys1095Ter
NP_001394884.1:p.Lys1095Ter
NP_001394885.1:p.Lys1095Ter
NP_001394886.1:p.Lys1096Ter
NP_001394887.1:p.Lys1095Ter
NP_001394888.1:p.Lys1080Ter
NP_001394889.1:p.Lys1080Ter
NP_001394891.1:p.Lys1079Ter
NP_001394892.1:p.Lys1080Ter
NP_001394893.1:p.Lys1159Ter
NP_001394894.1:p.Lys1039Ter
NP_001394895.1:p.Lys911Ter
NP_001394896.1:p.Lys911Ter
NP_001394897.1:p.Lys339Ter
NP_001394898.1:p.Lys339Ter
NP_009225.1:p.Lys1207Ter
NP_009225.1:p.Lys1207Ter
NP_009228.2:p.Lys1160Ter
NP_009231.2:p.Lys1207Ter
LRG_292t1:c.3619A>T
LRG_292:g.126072A>T
LRG_292p1:p.Lys1207Ter
NC_000017.10:g.41243929T>A
NM_007294.3:c.3619A>T
NR_027676.1:n.3755A>T
U14680.1:n.3738A>T

Protein change:

K1039*

Links:

dbSNP: rs80357455

NCBI 1000 Genomes Browser:

rs80357455

Molecular consequence:

NM_001407970.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-889A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-880A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3406A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.3610A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.3610A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.3541A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.3541A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.3541A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.3541A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.3541A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.3541A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.3538A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.3538A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.3538A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.3538A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.3541A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3406A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3616A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3418A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3415A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3415A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3406A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3406A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3406A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3406A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3406A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3406A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3409A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3406A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3406A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3406A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3406A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.3355A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.3355A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.3355A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.3355A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.3355A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.3355A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.3355A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.3355A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.3355A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.3355A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.3352A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.3352A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.3352A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.3355A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.3352A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.3355A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.3352A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.3496A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.3493A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.3286A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.3286A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.3286A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.3286A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.3286A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.3286A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.3286A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.3286A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.3283A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.3283A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.3283A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.3286A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.3283A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.3238A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.3238A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.3235A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.3238A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.3475A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.3115A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2731A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2731A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.1015A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.1015A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3478A>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3619A>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Homo sapiens mRNA for Homer-related protein Syn47
Homo sapiens mRNA for Homer-related protein Syn47
gi|4128042|emb|Y17829.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000144811	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Feb 20, 2004)	germline	clinical testing
SCV000299976	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000144811

Breast Cancer Information Core (BIC) (BRCA1)

no assertion criteria provided

Pathogenic
(Feb 20, 2004)

germline

clinical testing

SCV000299976

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))

Pathogenic
(Sep 8, 2016)

germline

curation

ENIGMA BRCA1/2 Classification Criteria (2015)

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144811.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Western European	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299976.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Variant allele predicted to encode a truncated non-functional protein.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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Relating variation to medicine