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NM_007294.4(BRCA1):c.1401G>A (p.Lys467=) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Likely benign (4 submissions)
Last evaluated:
Jun 29, 2017
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:
RCV000495630.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.1401G>A (p.Lys467=)]

NM_007294.4(BRCA1):c.1401G>A (p.Lys467=)

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.1401G>A (p.Lys467=)
HGVS:
  • NC_000017.11:g.43094130C>T
  • NG_005905.2:g.123854G>A
  • NM_001407571.1:c.1188G>A
  • NM_001407581.1:c.1401G>A
  • NM_001407582.1:c.1401G>A
  • NM_001407583.1:c.1401G>A
  • NM_001407585.1:c.1401G>A
  • NM_001407587.1:c.1398G>A
  • NM_001407590.1:c.1398G>A
  • NM_001407591.1:c.1398G>A
  • NM_001407593.1:c.1401G>A
  • NM_001407594.1:c.1401G>A
  • NM_001407596.1:c.1401G>A
  • NM_001407597.1:c.1401G>A
  • NM_001407598.1:c.1401G>A
  • NM_001407602.1:c.1401G>A
  • NM_001407603.1:c.1401G>A
  • NM_001407605.1:c.1401G>A
  • NM_001407610.1:c.1398G>A
  • NM_001407611.1:c.1398G>A
  • NM_001407612.1:c.1398G>A
  • NM_001407613.1:c.1398G>A
  • NM_001407614.1:c.1398G>A
  • NM_001407615.1:c.1398G>A
  • NM_001407616.1:c.1401G>A
  • NM_001407617.1:c.1401G>A
  • NM_001407618.1:c.1401G>A
  • NM_001407619.1:c.1401G>A
  • NM_001407620.1:c.1401G>A
  • NM_001407621.1:c.1401G>A
  • NM_001407622.1:c.1401G>A
  • NM_001407623.1:c.1401G>A
  • NM_001407624.1:c.1401G>A
  • NM_001407625.1:c.1401G>A
  • NM_001407626.1:c.1401G>A
  • NM_001407627.1:c.1398G>A
  • NM_001407628.1:c.1398G>A
  • NM_001407629.1:c.1398G>A
  • NM_001407630.1:c.1398G>A
  • NM_001407631.1:c.1398G>A
  • NM_001407632.1:c.1398G>A
  • NM_001407633.1:c.1398G>A
  • NM_001407634.1:c.1398G>A
  • NM_001407635.1:c.1398G>A
  • NM_001407636.1:c.1398G>A
  • NM_001407637.1:c.1398G>A
  • NM_001407638.1:c.1398G>A
  • NM_001407639.1:c.1401G>A
  • NM_001407640.1:c.1401G>A
  • NM_001407641.1:c.1401G>A
  • NM_001407642.1:c.1401G>A
  • NM_001407644.1:c.1398G>A
  • NM_001407645.1:c.1398G>A
  • NM_001407646.1:c.1392G>A
  • NM_001407647.1:c.1392G>A
  • NM_001407648.1:c.1278G>A
  • NM_001407649.1:c.1275G>A
  • NM_001407652.1:c.1401G>A
  • NM_001407653.1:c.1323G>A
  • NM_001407654.1:c.1323G>A
  • NM_001407655.1:c.1323G>A
  • NM_001407656.1:c.1323G>A
  • NM_001407657.1:c.1323G>A
  • NM_001407658.1:c.1323G>A
  • NM_001407659.1:c.1320G>A
  • NM_001407660.1:c.1320G>A
  • NM_001407661.1:c.1320G>A
  • NM_001407662.1:c.1320G>A
  • NM_001407663.1:c.1323G>A
  • NM_001407664.1:c.1278G>A
  • NM_001407665.1:c.1278G>A
  • NM_001407666.1:c.1278G>A
  • NM_001407667.1:c.1278G>A
  • NM_001407668.1:c.1278G>A
  • NM_001407669.1:c.1278G>A
  • NM_001407670.1:c.1275G>A
  • NM_001407671.1:c.1275G>A
  • NM_001407672.1:c.1275G>A
  • NM_001407673.1:c.1275G>A
  • NM_001407674.1:c.1278G>A
  • NM_001407675.1:c.1278G>A
  • NM_001407676.1:c.1278G>A
  • NM_001407677.1:c.1278G>A
  • NM_001407678.1:c.1278G>A
  • NM_001407679.1:c.1278G>A
  • NM_001407680.1:c.1278G>A
  • NM_001407681.1:c.1278G>A
  • NM_001407682.1:c.1278G>A
  • NM_001407683.1:c.1278G>A
  • NM_001407684.1:c.1401G>A
  • NM_001407685.1:c.1275G>A
  • NM_001407686.1:c.1275G>A
  • NM_001407687.1:c.1275G>A
  • NM_001407688.1:c.1275G>A
  • NM_001407689.1:c.1275G>A
  • NM_001407690.1:c.1275G>A
  • NM_001407691.1:c.1275G>A
  • NM_001407692.1:c.1260G>A
  • NM_001407694.1:c.1260G>A
  • NM_001407695.1:c.1260G>A
  • NM_001407696.1:c.1260G>A
  • NM_001407697.1:c.1260G>A
  • NM_001407698.1:c.1260G>A
  • NM_001407724.1:c.1260G>A
  • NM_001407725.1:c.1260G>A
  • NM_001407726.1:c.1260G>A
  • NM_001407727.1:c.1260G>A
  • NM_001407728.1:c.1260G>A
  • NM_001407729.1:c.1260G>A
  • NM_001407730.1:c.1260G>A
  • NM_001407731.1:c.1260G>A
  • NM_001407732.1:c.1260G>A
  • NM_001407733.1:c.1260G>A
  • NM_001407734.1:c.1260G>A
  • NM_001407735.1:c.1260G>A
  • NM_001407736.1:c.1260G>A
  • NM_001407737.1:c.1260G>A
  • NM_001407738.1:c.1260G>A
  • NM_001407739.1:c.1260G>A
  • NM_001407740.1:c.1257G>A
  • NM_001407741.1:c.1257G>A
  • NM_001407742.1:c.1257G>A
  • NM_001407743.1:c.1257G>A
  • NM_001407744.1:c.1257G>A
  • NM_001407745.1:c.1257G>A
  • NM_001407746.1:c.1257G>A
  • NM_001407747.1:c.1257G>A
  • NM_001407748.1:c.1257G>A
  • NM_001407749.1:c.1257G>A
  • NM_001407750.1:c.1260G>A
  • NM_001407751.1:c.1260G>A
  • NM_001407752.1:c.1260G>A
  • NM_001407838.1:c.1257G>A
  • NM_001407839.1:c.1257G>A
  • NM_001407841.1:c.1257G>A
  • NM_001407842.1:c.1257G>A
  • NM_001407843.1:c.1257G>A
  • NM_001407844.1:c.1257G>A
  • NM_001407845.1:c.1257G>A
  • NM_001407846.1:c.1257G>A
  • NM_001407847.1:c.1257G>A
  • NM_001407848.1:c.1257G>A
  • NM_001407849.1:c.1257G>A
  • NM_001407850.1:c.1260G>A
  • NM_001407851.1:c.1260G>A
  • NM_001407852.1:c.1260G>A
  • NM_001407853.1:c.1188G>A
  • NM_001407854.1:c.1401G>A
  • NM_001407858.1:c.1401G>A
  • NM_001407859.1:c.1401G>A
  • NM_001407860.1:c.1398G>A
  • NM_001407861.1:c.1398G>A
  • NM_001407862.1:c.1200G>A
  • NM_001407863.1:c.1278G>A
  • NM_001407874.1:c.1197G>A
  • NM_001407875.1:c.1197G>A
  • NM_001407879.1:c.1191G>A
  • NM_001407881.1:c.1191G>A
  • NM_001407882.1:c.1191G>A
  • NM_001407884.1:c.1191G>A
  • NM_001407885.1:c.1191G>A
  • NM_001407886.1:c.1191G>A
  • NM_001407887.1:c.1191G>A
  • NM_001407889.1:c.1191G>A
  • NM_001407894.1:c.1188G>A
  • NM_001407895.1:c.1188G>A
  • NM_001407896.1:c.1188G>A
  • NM_001407897.1:c.1188G>A
  • NM_001407898.1:c.1188G>A
  • NM_001407899.1:c.1188G>A
  • NM_001407900.1:c.1191G>A
  • NM_001407902.1:c.1191G>A
  • NM_001407904.1:c.1191G>A
  • NM_001407906.1:c.1191G>A
  • NM_001407907.1:c.1191G>A
  • NM_001407908.1:c.1191G>A
  • NM_001407909.1:c.1191G>A
  • NM_001407910.1:c.1191G>A
  • NM_001407915.1:c.1188G>A
  • NM_001407916.1:c.1188G>A
  • NM_001407917.1:c.1188G>A
  • NM_001407918.1:c.1188G>A
  • NM_001407919.1:c.1278G>A
  • NM_001407920.1:c.1137G>A
  • NM_001407921.1:c.1137G>A
  • NM_001407922.1:c.1137G>A
  • NM_001407923.1:c.1137G>A
  • NM_001407924.1:c.1137G>A
  • NM_001407925.1:c.1137G>A
  • NM_001407926.1:c.1137G>A
  • NM_001407927.1:c.1137G>A
  • NM_001407928.1:c.1137G>A
  • NM_001407929.1:c.1137G>A
  • NM_001407930.1:c.1134G>A
  • NM_001407931.1:c.1134G>A
  • NM_001407932.1:c.1134G>A
  • NM_001407933.1:c.1137G>A
  • NM_001407934.1:c.1134G>A
  • NM_001407935.1:c.1137G>A
  • NM_001407936.1:c.1134G>A
  • NM_001407937.1:c.1278G>A
  • NM_001407938.1:c.1278G>A
  • NM_001407939.1:c.1278G>A
  • NM_001407940.1:c.1275G>A
  • NM_001407941.1:c.1275G>A
  • NM_001407942.1:c.1260G>A
  • NM_001407943.1:c.1257G>A
  • NM_001407944.1:c.1260G>A
  • NM_001407945.1:c.1260G>A
  • NM_001407946.1:c.1068G>A
  • NM_001407947.1:c.1068G>A
  • NM_001407948.1:c.1068G>A
  • NM_001407949.1:c.1068G>A
  • NM_001407950.1:c.1068G>A
  • NM_001407951.1:c.1068G>A
  • NM_001407952.1:c.1068G>A
  • NM_001407953.1:c.1068G>A
  • NM_001407954.1:c.1065G>A
  • NM_001407955.1:c.1065G>A
  • NM_001407956.1:c.1065G>A
  • NM_001407957.1:c.1068G>A
  • NM_001407958.1:c.1065G>A
  • NM_001407959.1:c.1020G>A
  • NM_001407960.1:c.1020G>A
  • NM_001407962.1:c.1017G>A
  • NM_001407963.1:c.1020G>A
  • NM_001407964.1:c.1257G>A
  • NM_001407965.1:c.897G>A
  • NM_001407966.1:c.513G>A
  • NM_001407967.1:c.513G>A
  • NM_001407968.1:c.787+614G>A
  • NM_001407969.1:c.787+614G>A
  • NM_001407970.1:c.787+614G>A
  • NM_001407971.1:c.787+614G>A
  • NM_001407972.1:c.784+614G>A
  • NM_001407973.1:c.787+614G>A
  • NM_001407974.1:c.787+614G>A
  • NM_001407975.1:c.787+614G>A
  • NM_001407976.1:c.787+614G>A
  • NM_001407977.1:c.787+614G>A
  • NM_001407978.1:c.787+614G>A
  • NM_001407979.1:c.787+614G>A
  • NM_001407980.1:c.787+614G>A
  • NM_001407981.1:c.787+614G>A
  • NM_001407982.1:c.787+614G>A
  • NM_001407983.1:c.787+614G>A
  • NM_001407984.1:c.784+614G>A
  • NM_001407985.1:c.784+614G>A
  • NM_001407986.1:c.784+614G>A
  • NM_001407990.1:c.787+614G>A
  • NM_001407991.1:c.784+614G>A
  • NM_001407992.1:c.784+614G>A
  • NM_001407993.1:c.787+614G>A
  • NM_001408392.1:c.784+614G>A
  • NM_001408396.1:c.784+614G>A
  • NM_001408397.1:c.784+614G>A
  • NM_001408398.1:c.784+614G>A
  • NM_001408399.1:c.784+614G>A
  • NM_001408400.1:c.784+614G>A
  • NM_001408401.1:c.784+614G>A
  • NM_001408402.1:c.784+614G>A
  • NM_001408403.1:c.787+614G>A
  • NM_001408404.1:c.787+614G>A
  • NM_001408406.1:c.790+611G>A
  • NM_001408407.1:c.784+614G>A
  • NM_001408408.1:c.778+614G>A
  • NM_001408409.1:c.709+614G>A
  • NM_001408410.1:c.646+614G>A
  • NM_001408411.1:c.709+614G>A
  • NM_001408412.1:c.709+614G>A
  • NM_001408413.1:c.706+614G>A
  • NM_001408414.1:c.709+614G>A
  • NM_001408415.1:c.709+614G>A
  • NM_001408416.1:c.706+614G>A
  • NM_001408418.1:c.670+1716G>A
  • NM_001408419.1:c.670+1716G>A
  • NM_001408420.1:c.670+1716G>A
  • NM_001408421.1:c.667+1716G>A
  • NM_001408422.1:c.670+1716G>A
  • NM_001408423.1:c.670+1716G>A
  • NM_001408424.1:c.667+1716G>A
  • NM_001408425.1:c.664+614G>A
  • NM_001408426.1:c.664+614G>A
  • NM_001408427.1:c.664+614G>A
  • NM_001408428.1:c.664+614G>A
  • NM_001408429.1:c.664+614G>A
  • NM_001408430.1:c.664+614G>A
  • NM_001408431.1:c.667+1716G>A
  • NM_001408432.1:c.661+614G>A
  • NM_001408433.1:c.661+614G>A
  • NM_001408434.1:c.661+614G>A
  • NM_001408435.1:c.661+614G>A
  • NM_001408436.1:c.664+614G>A
  • NM_001408437.1:c.664+614G>A
  • NM_001408438.1:c.664+614G>A
  • NM_001408439.1:c.664+614G>A
  • NM_001408440.1:c.664+614G>A
  • NM_001408441.1:c.664+614G>A
  • NM_001408442.1:c.664+614G>A
  • NM_001408443.1:c.664+614G>A
  • NM_001408444.1:c.664+614G>A
  • NM_001408445.1:c.661+614G>A
  • NM_001408446.1:c.661+614G>A
  • NM_001408447.1:c.661+614G>A
  • NM_001408448.1:c.661+614G>A
  • NM_001408450.1:c.661+614G>A
  • NM_001408451.1:c.652+614G>A
  • NM_001408452.1:c.646+614G>A
  • NM_001408453.1:c.646+614G>A
  • NM_001408454.1:c.646+614G>A
  • NM_001408455.1:c.646+614G>A
  • NM_001408456.1:c.646+614G>A
  • NM_001408457.1:c.646+614G>A
  • NM_001408458.1:c.646+614G>A
  • NM_001408459.1:c.646+614G>A
  • NM_001408460.1:c.646+614G>A
  • NM_001408461.1:c.646+614G>A
  • NM_001408462.1:c.643+614G>A
  • NM_001408463.1:c.643+614G>A
  • NM_001408464.1:c.643+614G>A
  • NM_001408465.1:c.643+614G>A
  • NM_001408466.1:c.646+614G>A
  • NM_001408467.1:c.646+614G>A
  • NM_001408468.1:c.643+614G>A
  • NM_001408469.1:c.646+614G>A
  • NM_001408470.1:c.643+614G>A
  • NM_001408472.1:c.787+614G>A
  • NM_001408473.1:c.784+614G>A
  • NM_001408474.1:c.586+614G>A
  • NM_001408475.1:c.583+614G>A
  • NM_001408476.1:c.586+614G>A
  • NM_001408478.1:c.577+614G>A
  • NM_001408479.1:c.577+614G>A
  • NM_001408480.1:c.577+614G>A
  • NM_001408481.1:c.577+614G>A
  • NM_001408482.1:c.577+614G>A
  • NM_001408483.1:c.577+614G>A
  • NM_001408484.1:c.577+614G>A
  • NM_001408485.1:c.577+614G>A
  • NM_001408489.1:c.577+614G>A
  • NM_001408490.1:c.574+614G>A
  • NM_001408491.1:c.574+614G>A
  • NM_001408492.1:c.577+614G>A
  • NM_001408493.1:c.574+614G>A
  • NM_001408494.1:c.548-3098G>A
  • NM_001408495.1:c.545-3098G>A
  • NM_001408496.1:c.523+614G>A
  • NM_001408497.1:c.523+614G>A
  • NM_001408498.1:c.523+614G>A
  • NM_001408499.1:c.523+614G>A
  • NM_001408500.1:c.523+614G>A
  • NM_001408501.1:c.523+614G>A
  • NM_001408502.1:c.454+614G>A
  • NM_001408503.1:c.520+614G>A
  • NM_001408504.1:c.520+614G>A
  • NM_001408505.1:c.520+614G>A
  • NM_001408506.1:c.460+1716G>A
  • NM_001408507.1:c.460+1716G>A
  • NM_001408508.1:c.451+614G>A
  • NM_001408509.1:c.451+614G>A
  • NM_001408510.1:c.406+614G>A
  • NM_001408511.1:c.404-3098G>A
  • NM_001408512.1:c.283+614G>A
  • NM_001408513.1:c.577+614G>A
  • NM_001408514.1:c.577+614G>A
  • NM_007294.4:c.1401G>AMANE SELECT
  • NM_007297.4:c.1260G>A
  • NM_007298.4:c.787+614G>A
  • NM_007299.4:c.787+614G>A
  • NM_007300.4:c.1401G>A
  • NP_001394500.1:p.Lys396=
  • NP_001394510.1:p.Lys467=
  • NP_001394511.1:p.Lys467=
  • NP_001394512.1:p.Lys467=
  • NP_001394514.1:p.Lys467=
  • NP_001394516.1:p.Lys466=
  • NP_001394519.1:p.Lys466=
  • NP_001394520.1:p.Lys466=
  • NP_001394522.1:p.Lys467=
  • NP_001394523.1:p.Lys467=
  • NP_001394525.1:p.Lys467=
  • NP_001394526.1:p.Lys467=
  • NP_001394527.1:p.Lys467=
  • NP_001394531.1:p.Lys467=
  • NP_001394532.1:p.Lys467=
  • NP_001394534.1:p.Lys467=
  • NP_001394539.1:p.Lys466=
  • NP_001394540.1:p.Lys466=
  • NP_001394541.1:p.Lys466=
  • NP_001394542.1:p.Lys466=
  • NP_001394543.1:p.Lys466=
  • NP_001394544.1:p.Lys466=
  • NP_001394545.1:p.Lys467=
  • NP_001394546.1:p.Lys467=
  • NP_001394547.1:p.Lys467=
  • NP_001394548.1:p.Lys467=
  • NP_001394549.1:p.Lys467=
  • NP_001394550.1:p.Lys467=
  • NP_001394551.1:p.Lys467=
  • NP_001394552.1:p.Lys467=
  • NP_001394553.1:p.Lys467=
  • NP_001394554.1:p.Lys467=
  • NP_001394555.1:p.Lys467=
  • NP_001394556.1:p.Lys466=
  • NP_001394557.1:p.Lys466=
  • NP_001394558.1:p.Lys466=
  • NP_001394559.1:p.Lys466=
  • NP_001394560.1:p.Lys466=
  • NP_001394561.1:p.Lys466=
  • NP_001394562.1:p.Lys466=
  • NP_001394563.1:p.Lys466=
  • NP_001394564.1:p.Lys466=
  • NP_001394565.1:p.Lys466=
  • NP_001394566.1:p.Lys466=
  • NP_001394567.1:p.Lys466=
  • NP_001394568.1:p.Lys467=
  • NP_001394569.1:p.Lys467=
  • NP_001394570.1:p.Lys467=
  • NP_001394571.1:p.Lys467=
  • NP_001394573.1:p.Lys466=
  • NP_001394574.1:p.Lys466=
  • NP_001394575.1:p.Lys464=
  • NP_001394576.1:p.Lys464=
  • NP_001394577.1:p.Lys426=
  • NP_001394578.1:p.Lys425=
  • NP_001394581.1:p.Lys467=
  • NP_001394582.1:p.Lys441=
  • NP_001394583.1:p.Lys441=
  • NP_001394584.1:p.Lys441=
  • NP_001394585.1:p.Lys441=
  • NP_001394586.1:p.Lys441=
  • NP_001394587.1:p.Lys441=
  • NP_001394588.1:p.Lys440=
  • NP_001394589.1:p.Lys440=
  • NP_001394590.1:p.Lys440=
  • NP_001394591.1:p.Lys440=
  • NP_001394592.1:p.Lys441=
  • NP_001394593.1:p.Lys426=
  • NP_001394594.1:p.Lys426=
  • NP_001394595.1:p.Lys426=
  • NP_001394596.1:p.Lys426=
  • NP_001394597.1:p.Lys426=
  • NP_001394598.1:p.Lys426=
  • NP_001394599.1:p.Lys425=
  • NP_001394600.1:p.Lys425=
  • NP_001394601.1:p.Lys425=
  • NP_001394602.1:p.Lys425=
  • NP_001394603.1:p.Lys426=
  • NP_001394604.1:p.Lys426=
  • NP_001394605.1:p.Lys426=
  • NP_001394606.1:p.Lys426=
  • NP_001394607.1:p.Lys426=
  • NP_001394608.1:p.Lys426=
  • NP_001394609.1:p.Lys426=
  • NP_001394610.1:p.Lys426=
  • NP_001394611.1:p.Lys426=
  • NP_001394612.1:p.Lys426=
  • NP_001394613.1:p.Lys467=
  • NP_001394614.1:p.Lys425=
  • NP_001394615.1:p.Lys425=
  • NP_001394616.1:p.Lys425=
  • NP_001394617.1:p.Lys425=
  • NP_001394618.1:p.Lys425=
  • NP_001394619.1:p.Lys425=
  • NP_001394620.1:p.Lys425=
  • NP_001394621.1:p.Lys420=
  • NP_001394623.1:p.Lys420=
  • NP_001394624.1:p.Lys420=
  • NP_001394625.1:p.Lys420=
  • NP_001394626.1:p.Lys420=
  • NP_001394627.1:p.Lys420=
  • NP_001394653.1:p.Lys420=
  • NP_001394654.1:p.Lys420=
  • NP_001394655.1:p.Lys420=
  • NP_001394656.1:p.Lys420=
  • NP_001394657.1:p.Lys420=
  • NP_001394658.1:p.Lys420=
  • NP_001394659.1:p.Lys420=
  • NP_001394660.1:p.Lys420=
  • NP_001394661.1:p.Lys420=
  • NP_001394662.1:p.Lys420=
  • NP_001394663.1:p.Lys420=
  • NP_001394664.1:p.Lys420=
  • NP_001394665.1:p.Lys420=
  • NP_001394666.1:p.Lys420=
  • NP_001394667.1:p.Lys420=
  • NP_001394668.1:p.Lys420=
  • NP_001394669.1:p.Lys419=
  • NP_001394670.1:p.Lys419=
  • NP_001394671.1:p.Lys419=
  • NP_001394672.1:p.Lys419=
  • NP_001394673.1:p.Lys419=
  • NP_001394674.1:p.Lys419=
  • NP_001394675.1:p.Lys419=
  • NP_001394676.1:p.Lys419=
  • NP_001394677.1:p.Lys419=
  • NP_001394678.1:p.Lys419=
  • NP_001394679.1:p.Lys420=
  • NP_001394680.1:p.Lys420=
  • NP_001394681.1:p.Lys420=
  • NP_001394767.1:p.Lys419=
  • NP_001394768.1:p.Lys419=
  • NP_001394770.1:p.Lys419=
  • NP_001394771.1:p.Lys419=
  • NP_001394772.1:p.Lys419=
  • NP_001394773.1:p.Lys419=
  • NP_001394774.1:p.Lys419=
  • NP_001394775.1:p.Lys419=
  • NP_001394776.1:p.Lys419=
  • NP_001394777.1:p.Lys419=
  • NP_001394778.1:p.Lys419=
  • NP_001394779.1:p.Lys420=
  • NP_001394780.1:p.Lys420=
  • NP_001394781.1:p.Lys420=
  • NP_001394782.1:p.Lys396=
  • NP_001394783.1:p.Lys467=
  • NP_001394787.1:p.Lys467=
  • NP_001394788.1:p.Lys467=
  • NP_001394789.1:p.Lys466=
  • NP_001394790.1:p.Lys466=
  • NP_001394791.1:p.Lys400=
  • NP_001394792.1:p.Lys426=
  • NP_001394803.1:p.Lys399=
  • NP_001394804.1:p.Lys399=
  • NP_001394808.1:p.Lys397=
  • NP_001394810.1:p.Lys397=
  • NP_001394811.1:p.Lys397=
  • NP_001394813.1:p.Lys397=
  • NP_001394814.1:p.Lys397=
  • NP_001394815.1:p.Lys397=
  • NP_001394816.1:p.Lys397=
  • NP_001394818.1:p.Lys397=
  • NP_001394823.1:p.Lys396=
  • NP_001394824.1:p.Lys396=
  • NP_001394825.1:p.Lys396=
  • NP_001394826.1:p.Lys396=
  • NP_001394827.1:p.Lys396=
  • NP_001394828.1:p.Lys396=
  • NP_001394829.1:p.Lys397=
  • NP_001394831.1:p.Lys397=
  • NP_001394833.1:p.Lys397=
  • NP_001394835.1:p.Lys397=
  • NP_001394836.1:p.Lys397=
  • NP_001394837.1:p.Lys397=
  • NP_001394838.1:p.Lys397=
  • NP_001394839.1:p.Lys397=
  • NP_001394844.1:p.Lys396=
  • NP_001394845.1:p.Lys396=
  • NP_001394846.1:p.Lys396=
  • NP_001394847.1:p.Lys396=
  • NP_001394848.1:p.Lys426=
  • NP_001394849.1:p.Lys379=
  • NP_001394850.1:p.Lys379=
  • NP_001394851.1:p.Lys379=
  • NP_001394852.1:p.Lys379=
  • NP_001394853.1:p.Lys379=
  • NP_001394854.1:p.Lys379=
  • NP_001394855.1:p.Lys379=
  • NP_001394856.1:p.Lys379=
  • NP_001394857.1:p.Lys379=
  • NP_001394858.1:p.Lys379=
  • NP_001394859.1:p.Lys378=
  • NP_001394860.1:p.Lys378=
  • NP_001394861.1:p.Lys378=
  • NP_001394862.1:p.Lys379=
  • NP_001394863.1:p.Lys378=
  • NP_001394864.1:p.Lys379=
  • NP_001394865.1:p.Lys378=
  • NP_001394866.1:p.Lys426=
  • NP_001394867.1:p.Lys426=
  • NP_001394868.1:p.Lys426=
  • NP_001394869.1:p.Lys425=
  • NP_001394870.1:p.Lys425=
  • NP_001394871.1:p.Lys420=
  • NP_001394872.1:p.Lys419=
  • NP_001394873.1:p.Lys420=
  • NP_001394874.1:p.Lys420=
  • NP_001394875.1:p.Lys356=
  • NP_001394876.1:p.Lys356=
  • NP_001394877.1:p.Lys356=
  • NP_001394878.1:p.Lys356=
  • NP_001394879.1:p.Lys356=
  • NP_001394880.1:p.Lys356=
  • NP_001394881.1:p.Lys356=
  • NP_001394882.1:p.Lys356=
  • NP_001394883.1:p.Lys355=
  • NP_001394884.1:p.Lys355=
  • NP_001394885.1:p.Lys355=
  • NP_001394886.1:p.Lys356=
  • NP_001394887.1:p.Lys355=
  • NP_001394888.1:p.Lys340=
  • NP_001394889.1:p.Lys340=
  • NP_001394891.1:p.Lys339=
  • NP_001394892.1:p.Lys340=
  • NP_001394893.1:p.Lys419=
  • NP_001394894.1:p.Lys299=
  • NP_001394895.1:p.Lys171=
  • NP_001394896.1:p.Lys171=
  • NP_009225.1:p.Lys467=
  • NP_009225.1:p.Lys467=
  • NP_009228.2:p.Lys420=
  • NP_009231.2:p.Lys467=
  • LRG_292t1:c.1401G>A
  • LRG_292:g.123854G>A
  • LRG_292p1:p.Lys467=
  • NC_000017.10:g.41246147C>T
  • NM_007294.3:c.1401G>A
  • NR_027676.2:n.1578G>A
  • p.K467K
Links:
dbSNP: rs786201323
NCBI 1000 Genomes Browser:
rs786201323
Molecular consequence:
  • NM_001407968.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+611G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1716G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1716G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1716G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1716G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1716G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1716G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1716G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1716G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3098G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3098G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1716G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1716G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3098G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+614G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1188G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407581.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407582.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407583.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407585.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407587.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407590.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407591.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407593.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407594.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407596.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407597.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407598.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407602.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407603.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407605.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407610.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407611.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407612.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407613.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407614.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407615.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407616.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407617.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407618.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407619.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407620.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407621.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407622.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407623.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407624.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407625.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407626.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407627.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407628.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407629.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407630.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407631.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407632.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407633.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407634.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407635.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407636.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407637.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407638.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407639.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407640.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407641.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407642.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407644.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407645.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407646.1:c.1392G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407647.1:c.1392G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407648.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407649.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407652.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407653.1:c.1323G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407654.1:c.1323G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407655.1:c.1323G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407656.1:c.1323G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407657.1:c.1323G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407658.1:c.1323G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407659.1:c.1320G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407660.1:c.1320G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407661.1:c.1320G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407662.1:c.1320G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407663.1:c.1323G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407664.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407665.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407666.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407667.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407668.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407669.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407670.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407671.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407672.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407673.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407674.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407675.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407676.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407677.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407678.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407679.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407680.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407681.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407682.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407683.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407684.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407685.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407686.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407687.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407688.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407689.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407690.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407691.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407692.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407694.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407695.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407696.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407697.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407698.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407724.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407725.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407726.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407727.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407728.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407729.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407730.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407731.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407732.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407733.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407734.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407735.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407736.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407737.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407738.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407739.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407740.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407741.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407742.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407743.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407744.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407745.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407746.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407747.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407748.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407749.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407750.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407751.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407752.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407838.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407839.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407841.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407842.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407843.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407844.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407845.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407846.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407847.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407848.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407849.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407850.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407851.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407852.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407853.1:c.1188G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407854.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407858.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407859.1:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407860.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407861.1:c.1398G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407862.1:c.1200G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407863.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407874.1:c.1197G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407875.1:c.1197G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407879.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407881.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407882.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407884.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407885.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407886.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407887.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407889.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407894.1:c.1188G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407895.1:c.1188G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407896.1:c.1188G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407897.1:c.1188G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407898.1:c.1188G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407899.1:c.1188G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407900.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407902.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407904.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407906.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407907.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407908.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407909.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407910.1:c.1191G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407915.1:c.1188G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407916.1:c.1188G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407917.1:c.1188G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407918.1:c.1188G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407919.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407920.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407921.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407922.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407923.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407924.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407925.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407926.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407927.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407928.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407929.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407930.1:c.1134G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407931.1:c.1134G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407932.1:c.1134G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407933.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407934.1:c.1134G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407935.1:c.1137G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407936.1:c.1134G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407937.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407938.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407939.1:c.1278G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407940.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407941.1:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407942.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407943.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407944.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407945.1:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407946.1:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407947.1:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407948.1:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407949.1:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407950.1:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407951.1:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407952.1:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407953.1:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407954.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407955.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407956.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407957.1:c.1068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407958.1:c.1065G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407959.1:c.1020G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407960.1:c.1020G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407962.1:c.1017G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407963.1:c.1020G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407964.1:c.1257G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407965.1:c.897G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407966.1:c.513G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407967.1:c.513G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007294.4:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007297.4:c.1260G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007300.4:c.1401G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
4

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000578328Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))		Likely benign
(Jun 29, 2017) 		germlinecuration

Citation Link,

SCV000785443Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Likely benign
(Aug 11, 2017) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf,

Citation Link,

SCV001140605Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Benign
(May 28, 2019) 		unknownclinical testing

Citation Link,

SCV004818335All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Benign
(Nov 20, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown4not providednot provided108544not providedclinical testing, curation

Citations

PubMed

Prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi, China.

Sun L, Liu J, Wang S, Chen Y, Li Z.

Int J Clin Exp Pathol. 2014;7(9):6262-9.

PubMed [citation]
PMID:
25337278
PMCID:
PMC4203249

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000578328.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).

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

From Counsyl, SCV000785443.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001140605.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004818335.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided4not providednot providednot provided

Last Updated: Oct 13, 2024