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NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 18, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000111597.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr)]

NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr)

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.1367T>C (p.Ile456Thr)
HGVS:
  • NC_000017.11:g.43094164A>G
  • NG_005905.2:g.123820T>C
  • NM_001407571.1:c.1154T>C
  • NM_001407581.1:c.1367T>C
  • NM_001407582.1:c.1367T>C
  • NM_001407583.1:c.1367T>C
  • NM_001407585.1:c.1367T>C
  • NM_001407587.1:c.1364T>C
  • NM_001407590.1:c.1364T>C
  • NM_001407591.1:c.1364T>C
  • NM_001407593.1:c.1367T>C
  • NM_001407594.1:c.1367T>C
  • NM_001407596.1:c.1367T>C
  • NM_001407597.1:c.1367T>C
  • NM_001407598.1:c.1367T>C
  • NM_001407602.1:c.1367T>C
  • NM_001407603.1:c.1367T>C
  • NM_001407605.1:c.1367T>C
  • NM_001407610.1:c.1364T>C
  • NM_001407611.1:c.1364T>C
  • NM_001407612.1:c.1364T>C
  • NM_001407613.1:c.1364T>C
  • NM_001407614.1:c.1364T>C
  • NM_001407615.1:c.1364T>C
  • NM_001407616.1:c.1367T>C
  • NM_001407617.1:c.1367T>C
  • NM_001407618.1:c.1367T>C
  • NM_001407619.1:c.1367T>C
  • NM_001407620.1:c.1367T>C
  • NM_001407621.1:c.1367T>C
  • NM_001407622.1:c.1367T>C
  • NM_001407623.1:c.1367T>C
  • NM_001407624.1:c.1367T>C
  • NM_001407625.1:c.1367T>C
  • NM_001407626.1:c.1367T>C
  • NM_001407627.1:c.1364T>C
  • NM_001407628.1:c.1364T>C
  • NM_001407629.1:c.1364T>C
  • NM_001407630.1:c.1364T>C
  • NM_001407631.1:c.1364T>C
  • NM_001407632.1:c.1364T>C
  • NM_001407633.1:c.1364T>C
  • NM_001407634.1:c.1364T>C
  • NM_001407635.1:c.1364T>C
  • NM_001407636.1:c.1364T>C
  • NM_001407637.1:c.1364T>C
  • NM_001407638.1:c.1364T>C
  • NM_001407639.1:c.1367T>C
  • NM_001407640.1:c.1367T>C
  • NM_001407641.1:c.1367T>C
  • NM_001407642.1:c.1367T>C
  • NM_001407644.1:c.1364T>C
  • NM_001407645.1:c.1364T>C
  • NM_001407646.1:c.1358T>C
  • NM_001407647.1:c.1358T>C
  • NM_001407648.1:c.1244T>C
  • NM_001407649.1:c.1241T>C
  • NM_001407652.1:c.1367T>C
  • NM_001407653.1:c.1289T>C
  • NM_001407654.1:c.1289T>C
  • NM_001407655.1:c.1289T>C
  • NM_001407656.1:c.1289T>C
  • NM_001407657.1:c.1289T>C
  • NM_001407658.1:c.1289T>C
  • NM_001407659.1:c.1286T>C
  • NM_001407660.1:c.1286T>C
  • NM_001407661.1:c.1286T>C
  • NM_001407662.1:c.1286T>C
  • NM_001407663.1:c.1289T>C
  • NM_001407664.1:c.1244T>C
  • NM_001407665.1:c.1244T>C
  • NM_001407666.1:c.1244T>C
  • NM_001407667.1:c.1244T>C
  • NM_001407668.1:c.1244T>C
  • NM_001407669.1:c.1244T>C
  • NM_001407670.1:c.1241T>C
  • NM_001407671.1:c.1241T>C
  • NM_001407672.1:c.1241T>C
  • NM_001407673.1:c.1241T>C
  • NM_001407674.1:c.1244T>C
  • NM_001407675.1:c.1244T>C
  • NM_001407676.1:c.1244T>C
  • NM_001407677.1:c.1244T>C
  • NM_001407678.1:c.1244T>C
  • NM_001407679.1:c.1244T>C
  • NM_001407680.1:c.1244T>C
  • NM_001407681.1:c.1244T>C
  • NM_001407682.1:c.1244T>C
  • NM_001407683.1:c.1244T>C
  • NM_001407684.1:c.1367T>C
  • NM_001407685.1:c.1241T>C
  • NM_001407686.1:c.1241T>C
  • NM_001407687.1:c.1241T>C
  • NM_001407688.1:c.1241T>C
  • NM_001407689.1:c.1241T>C
  • NM_001407690.1:c.1241T>C
  • NM_001407691.1:c.1241T>C
  • NM_001407692.1:c.1226T>C
  • NM_001407694.1:c.1226T>C
  • NM_001407695.1:c.1226T>C
  • NM_001407696.1:c.1226T>C
  • NM_001407697.1:c.1226T>C
  • NM_001407698.1:c.1226T>C
  • NM_001407724.1:c.1226T>C
  • NM_001407725.1:c.1226T>C
  • NM_001407726.1:c.1226T>C
  • NM_001407727.1:c.1226T>C
  • NM_001407728.1:c.1226T>C
  • NM_001407729.1:c.1226T>C
  • NM_001407730.1:c.1226T>C
  • NM_001407731.1:c.1226T>C
  • NM_001407732.1:c.1226T>C
  • NM_001407733.1:c.1226T>C
  • NM_001407734.1:c.1226T>C
  • NM_001407735.1:c.1226T>C
  • NM_001407736.1:c.1226T>C
  • NM_001407737.1:c.1226T>C
  • NM_001407738.1:c.1226T>C
  • NM_001407739.1:c.1226T>C
  • NM_001407740.1:c.1223T>C
  • NM_001407741.1:c.1223T>C
  • NM_001407742.1:c.1223T>C
  • NM_001407743.1:c.1223T>C
  • NM_001407744.1:c.1223T>C
  • NM_001407745.1:c.1223T>C
  • NM_001407746.1:c.1223T>C
  • NM_001407747.1:c.1223T>C
  • NM_001407748.1:c.1223T>C
  • NM_001407749.1:c.1223T>C
  • NM_001407750.1:c.1226T>C
  • NM_001407751.1:c.1226T>C
  • NM_001407752.1:c.1226T>C
  • NM_001407838.1:c.1223T>C
  • NM_001407839.1:c.1223T>C
  • NM_001407841.1:c.1223T>C
  • NM_001407842.1:c.1223T>C
  • NM_001407843.1:c.1223T>C
  • NM_001407844.1:c.1223T>C
  • NM_001407845.1:c.1223T>C
  • NM_001407846.1:c.1223T>C
  • NM_001407847.1:c.1223T>C
  • NM_001407848.1:c.1223T>C
  • NM_001407849.1:c.1223T>C
  • NM_001407850.1:c.1226T>C
  • NM_001407851.1:c.1226T>C
  • NM_001407852.1:c.1226T>C
  • NM_001407853.1:c.1154T>C
  • NM_001407854.1:c.1367T>C
  • NM_001407858.1:c.1367T>C
  • NM_001407859.1:c.1367T>C
  • NM_001407860.1:c.1364T>C
  • NM_001407861.1:c.1364T>C
  • NM_001407862.1:c.1166T>C
  • NM_001407863.1:c.1244T>C
  • NM_001407874.1:c.1163T>C
  • NM_001407875.1:c.1163T>C
  • NM_001407879.1:c.1157T>C
  • NM_001407881.1:c.1157T>C
  • NM_001407882.1:c.1157T>C
  • NM_001407884.1:c.1157T>C
  • NM_001407885.1:c.1157T>C
  • NM_001407886.1:c.1157T>C
  • NM_001407887.1:c.1157T>C
  • NM_001407889.1:c.1157T>C
  • NM_001407894.1:c.1154T>C
  • NM_001407895.1:c.1154T>C
  • NM_001407896.1:c.1154T>C
  • NM_001407897.1:c.1154T>C
  • NM_001407898.1:c.1154T>C
  • NM_001407899.1:c.1154T>C
  • NM_001407900.1:c.1157T>C
  • NM_001407902.1:c.1157T>C
  • NM_001407904.1:c.1157T>C
  • NM_001407906.1:c.1157T>C
  • NM_001407907.1:c.1157T>C
  • NM_001407908.1:c.1157T>C
  • NM_001407909.1:c.1157T>C
  • NM_001407910.1:c.1157T>C
  • NM_001407915.1:c.1154T>C
  • NM_001407916.1:c.1154T>C
  • NM_001407917.1:c.1154T>C
  • NM_001407918.1:c.1154T>C
  • NM_001407919.1:c.1244T>C
  • NM_001407920.1:c.1103T>C
  • NM_001407921.1:c.1103T>C
  • NM_001407922.1:c.1103T>C
  • NM_001407923.1:c.1103T>C
  • NM_001407924.1:c.1103T>C
  • NM_001407925.1:c.1103T>C
  • NM_001407926.1:c.1103T>C
  • NM_001407927.1:c.1103T>C
  • NM_001407928.1:c.1103T>C
  • NM_001407929.1:c.1103T>C
  • NM_001407930.1:c.1100T>C
  • NM_001407931.1:c.1100T>C
  • NM_001407932.1:c.1100T>C
  • NM_001407933.1:c.1103T>C
  • NM_001407934.1:c.1100T>C
  • NM_001407935.1:c.1103T>C
  • NM_001407936.1:c.1100T>C
  • NM_001407937.1:c.1244T>C
  • NM_001407938.1:c.1244T>C
  • NM_001407939.1:c.1244T>C
  • NM_001407940.1:c.1241T>C
  • NM_001407941.1:c.1241T>C
  • NM_001407942.1:c.1226T>C
  • NM_001407943.1:c.1223T>C
  • NM_001407944.1:c.1226T>C
  • NM_001407945.1:c.1226T>C
  • NM_001407946.1:c.1034T>C
  • NM_001407947.1:c.1034T>C
  • NM_001407948.1:c.1034T>C
  • NM_001407949.1:c.1034T>C
  • NM_001407950.1:c.1034T>C
  • NM_001407951.1:c.1034T>C
  • NM_001407952.1:c.1034T>C
  • NM_001407953.1:c.1034T>C
  • NM_001407954.1:c.1031T>C
  • NM_001407955.1:c.1031T>C
  • NM_001407956.1:c.1031T>C
  • NM_001407957.1:c.1034T>C
  • NM_001407958.1:c.1031T>C
  • NM_001407959.1:c.986T>C
  • NM_001407960.1:c.986T>C
  • NM_001407962.1:c.983T>C
  • NM_001407963.1:c.986T>C
  • NM_001407964.1:c.1223T>C
  • NM_001407965.1:c.863T>C
  • NM_001407966.1:c.479T>C
  • NM_001407967.1:c.479T>C
  • NM_001407968.1:c.787+580T>C
  • NM_001407969.1:c.787+580T>C
  • NM_001407970.1:c.787+580T>C
  • NM_001407971.1:c.787+580T>C
  • NM_001407972.1:c.784+580T>C
  • NM_001407973.1:c.787+580T>C
  • NM_001407974.1:c.787+580T>C
  • NM_001407975.1:c.787+580T>C
  • NM_001407976.1:c.787+580T>C
  • NM_001407977.1:c.787+580T>C
  • NM_001407978.1:c.787+580T>C
  • NM_001407979.1:c.787+580T>C
  • NM_001407980.1:c.787+580T>C
  • NM_001407981.1:c.787+580T>C
  • NM_001407982.1:c.787+580T>C
  • NM_001407983.1:c.787+580T>C
  • NM_001407984.1:c.784+580T>C
  • NM_001407985.1:c.784+580T>C
  • NM_001407986.1:c.784+580T>C
  • NM_001407990.1:c.787+580T>C
  • NM_001407991.1:c.784+580T>C
  • NM_001407992.1:c.784+580T>C
  • NM_001407993.1:c.787+580T>C
  • NM_001408392.1:c.784+580T>C
  • NM_001408396.1:c.784+580T>C
  • NM_001408397.1:c.784+580T>C
  • NM_001408398.1:c.784+580T>C
  • NM_001408399.1:c.784+580T>C
  • NM_001408400.1:c.784+580T>C
  • NM_001408401.1:c.784+580T>C
  • NM_001408402.1:c.784+580T>C
  • NM_001408403.1:c.787+580T>C
  • NM_001408404.1:c.787+580T>C
  • NM_001408406.1:c.790+577T>C
  • NM_001408407.1:c.784+580T>C
  • NM_001408408.1:c.778+580T>C
  • NM_001408409.1:c.709+580T>C
  • NM_001408410.1:c.646+580T>C
  • NM_001408411.1:c.709+580T>C
  • NM_001408412.1:c.709+580T>C
  • NM_001408413.1:c.706+580T>C
  • NM_001408414.1:c.709+580T>C
  • NM_001408415.1:c.709+580T>C
  • NM_001408416.1:c.706+580T>C
  • NM_001408418.1:c.670+1682T>C
  • NM_001408419.1:c.670+1682T>C
  • NM_001408420.1:c.670+1682T>C
  • NM_001408421.1:c.667+1682T>C
  • NM_001408422.1:c.670+1682T>C
  • NM_001408423.1:c.670+1682T>C
  • NM_001408424.1:c.667+1682T>C
  • NM_001408425.1:c.664+580T>C
  • NM_001408426.1:c.664+580T>C
  • NM_001408427.1:c.664+580T>C
  • NM_001408428.1:c.664+580T>C
  • NM_001408429.1:c.664+580T>C
  • NM_001408430.1:c.664+580T>C
  • NM_001408431.1:c.667+1682T>C
  • NM_001408432.1:c.661+580T>C
  • NM_001408433.1:c.661+580T>C
  • NM_001408434.1:c.661+580T>C
  • NM_001408435.1:c.661+580T>C
  • NM_001408436.1:c.664+580T>C
  • NM_001408437.1:c.664+580T>C
  • NM_001408438.1:c.664+580T>C
  • NM_001408439.1:c.664+580T>C
  • NM_001408440.1:c.664+580T>C
  • NM_001408441.1:c.664+580T>C
  • NM_001408442.1:c.664+580T>C
  • NM_001408443.1:c.664+580T>C
  • NM_001408444.1:c.664+580T>C
  • NM_001408445.1:c.661+580T>C
  • NM_001408446.1:c.661+580T>C
  • NM_001408447.1:c.661+580T>C
  • NM_001408448.1:c.661+580T>C
  • NM_001408450.1:c.661+580T>C
  • NM_001408451.1:c.652+580T>C
  • NM_001408452.1:c.646+580T>C
  • NM_001408453.1:c.646+580T>C
  • NM_001408454.1:c.646+580T>C
  • NM_001408455.1:c.646+580T>C
  • NM_001408456.1:c.646+580T>C
  • NM_001408457.1:c.646+580T>C
  • NM_001408458.1:c.646+580T>C
  • NM_001408459.1:c.646+580T>C
  • NM_001408460.1:c.646+580T>C
  • NM_001408461.1:c.646+580T>C
  • NM_001408462.1:c.643+580T>C
  • NM_001408463.1:c.643+580T>C
  • NM_001408464.1:c.643+580T>C
  • NM_001408465.1:c.643+580T>C
  • NM_001408466.1:c.646+580T>C
  • NM_001408467.1:c.646+580T>C
  • NM_001408468.1:c.643+580T>C
  • NM_001408469.1:c.646+580T>C
  • NM_001408470.1:c.643+580T>C
  • NM_001408472.1:c.787+580T>C
  • NM_001408473.1:c.784+580T>C
  • NM_001408474.1:c.586+580T>C
  • NM_001408475.1:c.583+580T>C
  • NM_001408476.1:c.586+580T>C
  • NM_001408478.1:c.577+580T>C
  • NM_001408479.1:c.577+580T>C
  • NM_001408480.1:c.577+580T>C
  • NM_001408481.1:c.577+580T>C
  • NM_001408482.1:c.577+580T>C
  • NM_001408483.1:c.577+580T>C
  • NM_001408484.1:c.577+580T>C
  • NM_001408485.1:c.577+580T>C
  • NM_001408489.1:c.577+580T>C
  • NM_001408490.1:c.574+580T>C
  • NM_001408491.1:c.574+580T>C
  • NM_001408492.1:c.577+580T>C
  • NM_001408493.1:c.574+580T>C
  • NM_001408494.1:c.548-3132T>C
  • NM_001408495.1:c.545-3132T>C
  • NM_001408496.1:c.523+580T>C
  • NM_001408497.1:c.523+580T>C
  • NM_001408498.1:c.523+580T>C
  • NM_001408499.1:c.523+580T>C
  • NM_001408500.1:c.523+580T>C
  • NM_001408501.1:c.523+580T>C
  • NM_001408502.1:c.454+580T>C
  • NM_001408503.1:c.520+580T>C
  • NM_001408504.1:c.520+580T>C
  • NM_001408505.1:c.520+580T>C
  • NM_001408506.1:c.460+1682T>C
  • NM_001408507.1:c.460+1682T>C
  • NM_001408508.1:c.451+580T>C
  • NM_001408509.1:c.451+580T>C
  • NM_001408510.1:c.406+580T>C
  • NM_001408511.1:c.404-3132T>C
  • NM_001408512.1:c.283+580T>C
  • NM_001408513.1:c.577+580T>C
  • NM_001408514.1:c.577+580T>C
  • NM_007294.4:c.1367T>CMANE SELECT
  • NM_007297.4:c.1226T>C
  • NM_007298.4:c.787+580T>C
  • NM_007299.4:c.787+580T>C
  • NM_007300.4:c.1367T>C
  • NP_001394500.1:p.Ile385Thr
  • NP_001394510.1:p.Ile456Thr
  • NP_001394511.1:p.Ile456Thr
  • NP_001394512.1:p.Ile456Thr
  • NP_001394514.1:p.Ile456Thr
  • NP_001394516.1:p.Ile455Thr
  • NP_001394519.1:p.Ile455Thr
  • NP_001394520.1:p.Ile455Thr
  • NP_001394522.1:p.Ile456Thr
  • NP_001394523.1:p.Ile456Thr
  • NP_001394525.1:p.Ile456Thr
  • NP_001394526.1:p.Ile456Thr
  • NP_001394527.1:p.Ile456Thr
  • NP_001394531.1:p.Ile456Thr
  • NP_001394532.1:p.Ile456Thr
  • NP_001394534.1:p.Ile456Thr
  • NP_001394539.1:p.Ile455Thr
  • NP_001394540.1:p.Ile455Thr
  • NP_001394541.1:p.Ile455Thr
  • NP_001394542.1:p.Ile455Thr
  • NP_001394543.1:p.Ile455Thr
  • NP_001394544.1:p.Ile455Thr
  • NP_001394545.1:p.Ile456Thr
  • NP_001394546.1:p.Ile456Thr
  • NP_001394547.1:p.Ile456Thr
  • NP_001394548.1:p.Ile456Thr
  • NP_001394549.1:p.Ile456Thr
  • NP_001394550.1:p.Ile456Thr
  • NP_001394551.1:p.Ile456Thr
  • NP_001394552.1:p.Ile456Thr
  • NP_001394553.1:p.Ile456Thr
  • NP_001394554.1:p.Ile456Thr
  • NP_001394555.1:p.Ile456Thr
  • NP_001394556.1:p.Ile455Thr
  • NP_001394557.1:p.Ile455Thr
  • NP_001394558.1:p.Ile455Thr
  • NP_001394559.1:p.Ile455Thr
  • NP_001394560.1:p.Ile455Thr
  • NP_001394561.1:p.Ile455Thr
  • NP_001394562.1:p.Ile455Thr
  • NP_001394563.1:p.Ile455Thr
  • NP_001394564.1:p.Ile455Thr
  • NP_001394565.1:p.Ile455Thr
  • NP_001394566.1:p.Ile455Thr
  • NP_001394567.1:p.Ile455Thr
  • NP_001394568.1:p.Ile456Thr
  • NP_001394569.1:p.Ile456Thr
  • NP_001394570.1:p.Ile456Thr
  • NP_001394571.1:p.Ile456Thr
  • NP_001394573.1:p.Ile455Thr
  • NP_001394574.1:p.Ile455Thr
  • NP_001394575.1:p.Ile453Thr
  • NP_001394576.1:p.Ile453Thr
  • NP_001394577.1:p.Ile415Thr
  • NP_001394578.1:p.Ile414Thr
  • NP_001394581.1:p.Ile456Thr
  • NP_001394582.1:p.Ile430Thr
  • NP_001394583.1:p.Ile430Thr
  • NP_001394584.1:p.Ile430Thr
  • NP_001394585.1:p.Ile430Thr
  • NP_001394586.1:p.Ile430Thr
  • NP_001394587.1:p.Ile430Thr
  • NP_001394588.1:p.Ile429Thr
  • NP_001394589.1:p.Ile429Thr
  • NP_001394590.1:p.Ile429Thr
  • NP_001394591.1:p.Ile429Thr
  • NP_001394592.1:p.Ile430Thr
  • NP_001394593.1:p.Ile415Thr
  • NP_001394594.1:p.Ile415Thr
  • NP_001394595.1:p.Ile415Thr
  • NP_001394596.1:p.Ile415Thr
  • NP_001394597.1:p.Ile415Thr
  • NP_001394598.1:p.Ile415Thr
  • NP_001394599.1:p.Ile414Thr
  • NP_001394600.1:p.Ile414Thr
  • NP_001394601.1:p.Ile414Thr
  • NP_001394602.1:p.Ile414Thr
  • NP_001394603.1:p.Ile415Thr
  • NP_001394604.1:p.Ile415Thr
  • NP_001394605.1:p.Ile415Thr
  • NP_001394606.1:p.Ile415Thr
  • NP_001394607.1:p.Ile415Thr
  • NP_001394608.1:p.Ile415Thr
  • NP_001394609.1:p.Ile415Thr
  • NP_001394610.1:p.Ile415Thr
  • NP_001394611.1:p.Ile415Thr
  • NP_001394612.1:p.Ile415Thr
  • NP_001394613.1:p.Ile456Thr
  • NP_001394614.1:p.Ile414Thr
  • NP_001394615.1:p.Ile414Thr
  • NP_001394616.1:p.Ile414Thr
  • NP_001394617.1:p.Ile414Thr
  • NP_001394618.1:p.Ile414Thr
  • NP_001394619.1:p.Ile414Thr
  • NP_001394620.1:p.Ile414Thr
  • NP_001394621.1:p.Ile409Thr
  • NP_001394623.1:p.Ile409Thr
  • NP_001394624.1:p.Ile409Thr
  • NP_001394625.1:p.Ile409Thr
  • NP_001394626.1:p.Ile409Thr
  • NP_001394627.1:p.Ile409Thr
  • NP_001394653.1:p.Ile409Thr
  • NP_001394654.1:p.Ile409Thr
  • NP_001394655.1:p.Ile409Thr
  • NP_001394656.1:p.Ile409Thr
  • NP_001394657.1:p.Ile409Thr
  • NP_001394658.1:p.Ile409Thr
  • NP_001394659.1:p.Ile409Thr
  • NP_001394660.1:p.Ile409Thr
  • NP_001394661.1:p.Ile409Thr
  • NP_001394662.1:p.Ile409Thr
  • NP_001394663.1:p.Ile409Thr
  • NP_001394664.1:p.Ile409Thr
  • NP_001394665.1:p.Ile409Thr
  • NP_001394666.1:p.Ile409Thr
  • NP_001394667.1:p.Ile409Thr
  • NP_001394668.1:p.Ile409Thr
  • NP_001394669.1:p.Ile408Thr
  • NP_001394670.1:p.Ile408Thr
  • NP_001394671.1:p.Ile408Thr
  • NP_001394672.1:p.Ile408Thr
  • NP_001394673.1:p.Ile408Thr
  • NP_001394674.1:p.Ile408Thr
  • NP_001394675.1:p.Ile408Thr
  • NP_001394676.1:p.Ile408Thr
  • NP_001394677.1:p.Ile408Thr
  • NP_001394678.1:p.Ile408Thr
  • NP_001394679.1:p.Ile409Thr
  • NP_001394680.1:p.Ile409Thr
  • NP_001394681.1:p.Ile409Thr
  • NP_001394767.1:p.Ile408Thr
  • NP_001394768.1:p.Ile408Thr
  • NP_001394770.1:p.Ile408Thr
  • NP_001394771.1:p.Ile408Thr
  • NP_001394772.1:p.Ile408Thr
  • NP_001394773.1:p.Ile408Thr
  • NP_001394774.1:p.Ile408Thr
  • NP_001394775.1:p.Ile408Thr
  • NP_001394776.1:p.Ile408Thr
  • NP_001394777.1:p.Ile408Thr
  • NP_001394778.1:p.Ile408Thr
  • NP_001394779.1:p.Ile409Thr
  • NP_001394780.1:p.Ile409Thr
  • NP_001394781.1:p.Ile409Thr
  • NP_001394782.1:p.Ile385Thr
  • NP_001394783.1:p.Ile456Thr
  • NP_001394787.1:p.Ile456Thr
  • NP_001394788.1:p.Ile456Thr
  • NP_001394789.1:p.Ile455Thr
  • NP_001394790.1:p.Ile455Thr
  • NP_001394791.1:p.Ile389Thr
  • NP_001394792.1:p.Ile415Thr
  • NP_001394803.1:p.Ile388Thr
  • NP_001394804.1:p.Ile388Thr
  • NP_001394808.1:p.Ile386Thr
  • NP_001394810.1:p.Ile386Thr
  • NP_001394811.1:p.Ile386Thr
  • NP_001394813.1:p.Ile386Thr
  • NP_001394814.1:p.Ile386Thr
  • NP_001394815.1:p.Ile386Thr
  • NP_001394816.1:p.Ile386Thr
  • NP_001394818.1:p.Ile386Thr
  • NP_001394823.1:p.Ile385Thr
  • NP_001394824.1:p.Ile385Thr
  • NP_001394825.1:p.Ile385Thr
  • NP_001394826.1:p.Ile385Thr
  • NP_001394827.1:p.Ile385Thr
  • NP_001394828.1:p.Ile385Thr
  • NP_001394829.1:p.Ile386Thr
  • NP_001394831.1:p.Ile386Thr
  • NP_001394833.1:p.Ile386Thr
  • NP_001394835.1:p.Ile386Thr
  • NP_001394836.1:p.Ile386Thr
  • NP_001394837.1:p.Ile386Thr
  • NP_001394838.1:p.Ile386Thr
  • NP_001394839.1:p.Ile386Thr
  • NP_001394844.1:p.Ile385Thr
  • NP_001394845.1:p.Ile385Thr
  • NP_001394846.1:p.Ile385Thr
  • NP_001394847.1:p.Ile385Thr
  • NP_001394848.1:p.Ile415Thr
  • NP_001394849.1:p.Ile368Thr
  • NP_001394850.1:p.Ile368Thr
  • NP_001394851.1:p.Ile368Thr
  • NP_001394852.1:p.Ile368Thr
  • NP_001394853.1:p.Ile368Thr
  • NP_001394854.1:p.Ile368Thr
  • NP_001394855.1:p.Ile368Thr
  • NP_001394856.1:p.Ile368Thr
  • NP_001394857.1:p.Ile368Thr
  • NP_001394858.1:p.Ile368Thr
  • NP_001394859.1:p.Ile367Thr
  • NP_001394860.1:p.Ile367Thr
  • NP_001394861.1:p.Ile367Thr
  • NP_001394862.1:p.Ile368Thr
  • NP_001394863.1:p.Ile367Thr
  • NP_001394864.1:p.Ile368Thr
  • NP_001394865.1:p.Ile367Thr
  • NP_001394866.1:p.Ile415Thr
  • NP_001394867.1:p.Ile415Thr
  • NP_001394868.1:p.Ile415Thr
  • NP_001394869.1:p.Ile414Thr
  • NP_001394870.1:p.Ile414Thr
  • NP_001394871.1:p.Ile409Thr
  • NP_001394872.1:p.Ile408Thr
  • NP_001394873.1:p.Ile409Thr
  • NP_001394874.1:p.Ile409Thr
  • NP_001394875.1:p.Ile345Thr
  • NP_001394876.1:p.Ile345Thr
  • NP_001394877.1:p.Ile345Thr
  • NP_001394878.1:p.Ile345Thr
  • NP_001394879.1:p.Ile345Thr
  • NP_001394880.1:p.Ile345Thr
  • NP_001394881.1:p.Ile345Thr
  • NP_001394882.1:p.Ile345Thr
  • NP_001394883.1:p.Ile344Thr
  • NP_001394884.1:p.Ile344Thr
  • NP_001394885.1:p.Ile344Thr
  • NP_001394886.1:p.Ile345Thr
  • NP_001394887.1:p.Ile344Thr
  • NP_001394888.1:p.Ile329Thr
  • NP_001394889.1:p.Ile329Thr
  • NP_001394891.1:p.Ile328Thr
  • NP_001394892.1:p.Ile329Thr
  • NP_001394893.1:p.Ile408Thr
  • NP_001394894.1:p.Ile288Thr
  • NP_001394895.1:p.Ile160Thr
  • NP_001394896.1:p.Ile160Thr
  • NP_009225.1:p.Ile456Thr
  • NP_009225.1:p.Ile456Thr
  • NP_009228.2:p.Ile409Thr
  • NP_009231.2:p.Ile456Thr
  • LRG_292t1:c.1367T>C
  • LRG_292:g.123820T>C
  • LRG_292p1:p.Ile456Thr
  • NC_000017.10:g.41246181A>G
  • NM_007294.3:c.1367T>C
  • NR_027676.1:n.1503T>C
  • U14680.1:n.1486T>C
  • p.I456T
Protein change:
I160T
Links:
dbSNP: rs80357360
NCBI 1000 Genomes Browser:
rs80357360
Molecular consequence:
  • NM_001407968.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+577T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3132T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3132T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3132T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1358T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1286T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1286T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1286T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1286T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1166T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1163T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1163T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1100T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.983T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.986T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.479T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.479T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV000144068Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(May 29, 2002) 		germlineclinical testing

SCV000786351Counsyl
criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))		Uncertain significance
(Apr 18, 2018) 		unknownclinical testing

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

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Ashkenazigermlineyes1not providednot providednot providednot providedclinical testing
Asiangermlineyes1not providednot providednot providednot providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]
PMID:
16267036

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144068.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Ashkenazi1not providednot providedclinical testingnot provided
2Asian1not providednot providedclinical testingnot provided
3Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided
3germlineyesnot providednot providednot provided1not providednot providednot provided

From Counsyl, SCV000786351.2

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

Last Updated: Oct 8, 2024