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NM_007294.4(BRCA1):c.1642A>G (p.Ile548Val) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 25, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000111659.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.1642A>G (p.Ile548Val)]

NM_007294.4(BRCA1):c.1642A>G (p.Ile548Val)

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.1642A>G (p.Ile548Val)
HGVS:
  • NC_000017.11:g.43093889T>C
  • NG_005905.2:g.124095A>G
  • NM_001407571.1:c.1429A>G
  • NM_001407581.1:c.1642A>G
  • NM_001407582.1:c.1642A>G
  • NM_001407583.1:c.1642A>G
  • NM_001407585.1:c.1642A>G
  • NM_001407587.1:c.1639A>G
  • NM_001407590.1:c.1639A>G
  • NM_001407591.1:c.1639A>G
  • NM_001407593.1:c.1642A>G
  • NM_001407594.1:c.1642A>G
  • NM_001407596.1:c.1642A>G
  • NM_001407597.1:c.1642A>G
  • NM_001407598.1:c.1642A>G
  • NM_001407602.1:c.1642A>G
  • NM_001407603.1:c.1642A>G
  • NM_001407605.1:c.1642A>G
  • NM_001407610.1:c.1639A>G
  • NM_001407611.1:c.1639A>G
  • NM_001407612.1:c.1639A>G
  • NM_001407613.1:c.1639A>G
  • NM_001407614.1:c.1639A>G
  • NM_001407615.1:c.1639A>G
  • NM_001407616.1:c.1642A>G
  • NM_001407617.1:c.1642A>G
  • NM_001407618.1:c.1642A>G
  • NM_001407619.1:c.1642A>G
  • NM_001407620.1:c.1642A>G
  • NM_001407621.1:c.1642A>G
  • NM_001407622.1:c.1642A>G
  • NM_001407623.1:c.1642A>G
  • NM_001407624.1:c.1642A>G
  • NM_001407625.1:c.1642A>G
  • NM_001407626.1:c.1642A>G
  • NM_001407627.1:c.1639A>G
  • NM_001407628.1:c.1639A>G
  • NM_001407629.1:c.1639A>G
  • NM_001407630.1:c.1639A>G
  • NM_001407631.1:c.1639A>G
  • NM_001407632.1:c.1639A>G
  • NM_001407633.1:c.1639A>G
  • NM_001407634.1:c.1639A>G
  • NM_001407635.1:c.1639A>G
  • NM_001407636.1:c.1639A>G
  • NM_001407637.1:c.1639A>G
  • NM_001407638.1:c.1639A>G
  • NM_001407639.1:c.1642A>G
  • NM_001407640.1:c.1642A>G
  • NM_001407641.1:c.1642A>G
  • NM_001407642.1:c.1642A>G
  • NM_001407644.1:c.1639A>G
  • NM_001407645.1:c.1639A>G
  • NM_001407646.1:c.1633A>G
  • NM_001407647.1:c.1633A>G
  • NM_001407648.1:c.1519A>G
  • NM_001407649.1:c.1516A>G
  • NM_001407652.1:c.1642A>G
  • NM_001407653.1:c.1564A>G
  • NM_001407654.1:c.1564A>G
  • NM_001407655.1:c.1564A>G
  • NM_001407656.1:c.1564A>G
  • NM_001407657.1:c.1564A>G
  • NM_001407658.1:c.1564A>G
  • NM_001407659.1:c.1561A>G
  • NM_001407660.1:c.1561A>G
  • NM_001407661.1:c.1561A>G
  • NM_001407662.1:c.1561A>G
  • NM_001407663.1:c.1564A>G
  • NM_001407664.1:c.1519A>G
  • NM_001407665.1:c.1519A>G
  • NM_001407666.1:c.1519A>G
  • NM_001407667.1:c.1519A>G
  • NM_001407668.1:c.1519A>G
  • NM_001407669.1:c.1519A>G
  • NM_001407670.1:c.1516A>G
  • NM_001407671.1:c.1516A>G
  • NM_001407672.1:c.1516A>G
  • NM_001407673.1:c.1516A>G
  • NM_001407674.1:c.1519A>G
  • NM_001407675.1:c.1519A>G
  • NM_001407676.1:c.1519A>G
  • NM_001407677.1:c.1519A>G
  • NM_001407678.1:c.1519A>G
  • NM_001407679.1:c.1519A>G
  • NM_001407680.1:c.1519A>G
  • NM_001407681.1:c.1519A>G
  • NM_001407682.1:c.1519A>G
  • NM_001407683.1:c.1519A>G
  • NM_001407684.1:c.1642A>G
  • NM_001407685.1:c.1516A>G
  • NM_001407686.1:c.1516A>G
  • NM_001407687.1:c.1516A>G
  • NM_001407688.1:c.1516A>G
  • NM_001407689.1:c.1516A>G
  • NM_001407690.1:c.1516A>G
  • NM_001407691.1:c.1516A>G
  • NM_001407692.1:c.1501A>G
  • NM_001407694.1:c.1501A>G
  • NM_001407695.1:c.1501A>G
  • NM_001407696.1:c.1501A>G
  • NM_001407697.1:c.1501A>G
  • NM_001407698.1:c.1501A>G
  • NM_001407724.1:c.1501A>G
  • NM_001407725.1:c.1501A>G
  • NM_001407726.1:c.1501A>G
  • NM_001407727.1:c.1501A>G
  • NM_001407728.1:c.1501A>G
  • NM_001407729.1:c.1501A>G
  • NM_001407730.1:c.1501A>G
  • NM_001407731.1:c.1501A>G
  • NM_001407732.1:c.1501A>G
  • NM_001407733.1:c.1501A>G
  • NM_001407734.1:c.1501A>G
  • NM_001407735.1:c.1501A>G
  • NM_001407736.1:c.1501A>G
  • NM_001407737.1:c.1501A>G
  • NM_001407738.1:c.1501A>G
  • NM_001407739.1:c.1501A>G
  • NM_001407740.1:c.1498A>G
  • NM_001407741.1:c.1498A>G
  • NM_001407742.1:c.1498A>G
  • NM_001407743.1:c.1498A>G
  • NM_001407744.1:c.1498A>G
  • NM_001407745.1:c.1498A>G
  • NM_001407746.1:c.1498A>G
  • NM_001407747.1:c.1498A>G
  • NM_001407748.1:c.1498A>G
  • NM_001407749.1:c.1498A>G
  • NM_001407750.1:c.1501A>G
  • NM_001407751.1:c.1501A>G
  • NM_001407752.1:c.1501A>G
  • NM_001407838.1:c.1498A>G
  • NM_001407839.1:c.1498A>G
  • NM_001407841.1:c.1498A>G
  • NM_001407842.1:c.1498A>G
  • NM_001407843.1:c.1498A>G
  • NM_001407844.1:c.1498A>G
  • NM_001407845.1:c.1498A>G
  • NM_001407846.1:c.1498A>G
  • NM_001407847.1:c.1498A>G
  • NM_001407848.1:c.1498A>G
  • NM_001407849.1:c.1498A>G
  • NM_001407850.1:c.1501A>G
  • NM_001407851.1:c.1501A>G
  • NM_001407852.1:c.1501A>G
  • NM_001407853.1:c.1429A>G
  • NM_001407854.1:c.1642A>G
  • NM_001407858.1:c.1642A>G
  • NM_001407859.1:c.1642A>G
  • NM_001407860.1:c.1639A>G
  • NM_001407861.1:c.1639A>G
  • NM_001407862.1:c.1441A>G
  • NM_001407863.1:c.1519A>G
  • NM_001407874.1:c.1438A>G
  • NM_001407875.1:c.1438A>G
  • NM_001407879.1:c.1432A>G
  • NM_001407881.1:c.1432A>G
  • NM_001407882.1:c.1432A>G
  • NM_001407884.1:c.1432A>G
  • NM_001407885.1:c.1432A>G
  • NM_001407886.1:c.1432A>G
  • NM_001407887.1:c.1432A>G
  • NM_001407889.1:c.1432A>G
  • NM_001407894.1:c.1429A>G
  • NM_001407895.1:c.1429A>G
  • NM_001407896.1:c.1429A>G
  • NM_001407897.1:c.1429A>G
  • NM_001407898.1:c.1429A>G
  • NM_001407899.1:c.1429A>G
  • NM_001407900.1:c.1432A>G
  • NM_001407902.1:c.1432A>G
  • NM_001407904.1:c.1432A>G
  • NM_001407906.1:c.1432A>G
  • NM_001407907.1:c.1432A>G
  • NM_001407908.1:c.1432A>G
  • NM_001407909.1:c.1432A>G
  • NM_001407910.1:c.1432A>G
  • NM_001407915.1:c.1429A>G
  • NM_001407916.1:c.1429A>G
  • NM_001407917.1:c.1429A>G
  • NM_001407918.1:c.1429A>G
  • NM_001407919.1:c.1519A>G
  • NM_001407920.1:c.1378A>G
  • NM_001407921.1:c.1378A>G
  • NM_001407922.1:c.1378A>G
  • NM_001407923.1:c.1378A>G
  • NM_001407924.1:c.1378A>G
  • NM_001407925.1:c.1378A>G
  • NM_001407926.1:c.1378A>G
  • NM_001407927.1:c.1378A>G
  • NM_001407928.1:c.1378A>G
  • NM_001407929.1:c.1378A>G
  • NM_001407930.1:c.1375A>G
  • NM_001407931.1:c.1375A>G
  • NM_001407932.1:c.1375A>G
  • NM_001407933.1:c.1378A>G
  • NM_001407934.1:c.1375A>G
  • NM_001407935.1:c.1378A>G
  • NM_001407936.1:c.1375A>G
  • NM_001407937.1:c.1519A>G
  • NM_001407938.1:c.1519A>G
  • NM_001407939.1:c.1519A>G
  • NM_001407940.1:c.1516A>G
  • NM_001407941.1:c.1516A>G
  • NM_001407942.1:c.1501A>G
  • NM_001407943.1:c.1498A>G
  • NM_001407944.1:c.1501A>G
  • NM_001407945.1:c.1501A>G
  • NM_001407946.1:c.1309A>G
  • NM_001407947.1:c.1309A>G
  • NM_001407948.1:c.1309A>G
  • NM_001407949.1:c.1309A>G
  • NM_001407950.1:c.1309A>G
  • NM_001407951.1:c.1309A>G
  • NM_001407952.1:c.1309A>G
  • NM_001407953.1:c.1309A>G
  • NM_001407954.1:c.1306A>G
  • NM_001407955.1:c.1306A>G
  • NM_001407956.1:c.1306A>G
  • NM_001407957.1:c.1309A>G
  • NM_001407958.1:c.1306A>G
  • NM_001407959.1:c.1261A>G
  • NM_001407960.1:c.1261A>G
  • NM_001407962.1:c.1258A>G
  • NM_001407963.1:c.1261A>G
  • NM_001407964.1:c.1498A>G
  • NM_001407965.1:c.1138A>G
  • NM_001407966.1:c.754A>G
  • NM_001407967.1:c.754A>G
  • NM_001407968.1:c.787+855A>G
  • NM_001407969.1:c.787+855A>G
  • NM_001407970.1:c.787+855A>G
  • NM_001407971.1:c.787+855A>G
  • NM_001407972.1:c.784+855A>G
  • NM_001407973.1:c.787+855A>G
  • NM_001407974.1:c.787+855A>G
  • NM_001407975.1:c.787+855A>G
  • NM_001407976.1:c.787+855A>G
  • NM_001407977.1:c.787+855A>G
  • NM_001407978.1:c.787+855A>G
  • NM_001407979.1:c.787+855A>G
  • NM_001407980.1:c.787+855A>G
  • NM_001407981.1:c.787+855A>G
  • NM_001407982.1:c.787+855A>G
  • NM_001407983.1:c.787+855A>G
  • NM_001407984.1:c.784+855A>G
  • NM_001407985.1:c.784+855A>G
  • NM_001407986.1:c.784+855A>G
  • NM_001407990.1:c.787+855A>G
  • NM_001407991.1:c.784+855A>G
  • NM_001407992.1:c.784+855A>G
  • NM_001407993.1:c.787+855A>G
  • NM_001408392.1:c.784+855A>G
  • NM_001408396.1:c.784+855A>G
  • NM_001408397.1:c.784+855A>G
  • NM_001408398.1:c.784+855A>G
  • NM_001408399.1:c.784+855A>G
  • NM_001408400.1:c.784+855A>G
  • NM_001408401.1:c.784+855A>G
  • NM_001408402.1:c.784+855A>G
  • NM_001408403.1:c.787+855A>G
  • NM_001408404.1:c.787+855A>G
  • NM_001408406.1:c.790+852A>G
  • NM_001408407.1:c.784+855A>G
  • NM_001408408.1:c.778+855A>G
  • NM_001408409.1:c.709+855A>G
  • NM_001408410.1:c.646+855A>G
  • NM_001408411.1:c.709+855A>G
  • NM_001408412.1:c.709+855A>G
  • NM_001408413.1:c.706+855A>G
  • NM_001408414.1:c.709+855A>G
  • NM_001408415.1:c.709+855A>G
  • NM_001408416.1:c.706+855A>G
  • NM_001408418.1:c.670+1957A>G
  • NM_001408419.1:c.670+1957A>G
  • NM_001408420.1:c.670+1957A>G
  • NM_001408421.1:c.667+1957A>G
  • NM_001408422.1:c.670+1957A>G
  • NM_001408423.1:c.670+1957A>G
  • NM_001408424.1:c.667+1957A>G
  • NM_001408425.1:c.664+855A>G
  • NM_001408426.1:c.664+855A>G
  • NM_001408427.1:c.664+855A>G
  • NM_001408428.1:c.664+855A>G
  • NM_001408429.1:c.664+855A>G
  • NM_001408430.1:c.664+855A>G
  • NM_001408431.1:c.667+1957A>G
  • NM_001408432.1:c.661+855A>G
  • NM_001408433.1:c.661+855A>G
  • NM_001408434.1:c.661+855A>G
  • NM_001408435.1:c.661+855A>G
  • NM_001408436.1:c.664+855A>G
  • NM_001408437.1:c.664+855A>G
  • NM_001408438.1:c.664+855A>G
  • NM_001408439.1:c.664+855A>G
  • NM_001408440.1:c.664+855A>G
  • NM_001408441.1:c.664+855A>G
  • NM_001408442.1:c.664+855A>G
  • NM_001408443.1:c.664+855A>G
  • NM_001408444.1:c.664+855A>G
  • NM_001408445.1:c.661+855A>G
  • NM_001408446.1:c.661+855A>G
  • NM_001408447.1:c.661+855A>G
  • NM_001408448.1:c.661+855A>G
  • NM_001408450.1:c.661+855A>G
  • NM_001408451.1:c.652+855A>G
  • NM_001408452.1:c.646+855A>G
  • NM_001408453.1:c.646+855A>G
  • NM_001408454.1:c.646+855A>G
  • NM_001408455.1:c.646+855A>G
  • NM_001408456.1:c.646+855A>G
  • NM_001408457.1:c.646+855A>G
  • NM_001408458.1:c.646+855A>G
  • NM_001408459.1:c.646+855A>G
  • NM_001408460.1:c.646+855A>G
  • NM_001408461.1:c.646+855A>G
  • NM_001408462.1:c.643+855A>G
  • NM_001408463.1:c.643+855A>G
  • NM_001408464.1:c.643+855A>G
  • NM_001408465.1:c.643+855A>G
  • NM_001408466.1:c.646+855A>G
  • NM_001408467.1:c.646+855A>G
  • NM_001408468.1:c.643+855A>G
  • NM_001408469.1:c.646+855A>G
  • NM_001408470.1:c.643+855A>G
  • NM_001408472.1:c.787+855A>G
  • NM_001408473.1:c.784+855A>G
  • NM_001408474.1:c.586+855A>G
  • NM_001408475.1:c.583+855A>G
  • NM_001408476.1:c.586+855A>G
  • NM_001408478.1:c.577+855A>G
  • NM_001408479.1:c.577+855A>G
  • NM_001408480.1:c.577+855A>G
  • NM_001408481.1:c.577+855A>G
  • NM_001408482.1:c.577+855A>G
  • NM_001408483.1:c.577+855A>G
  • NM_001408484.1:c.577+855A>G
  • NM_001408485.1:c.577+855A>G
  • NM_001408489.1:c.577+855A>G
  • NM_001408490.1:c.574+855A>G
  • NM_001408491.1:c.574+855A>G
  • NM_001408492.1:c.577+855A>G
  • NM_001408493.1:c.574+855A>G
  • NM_001408494.1:c.548-2857A>G
  • NM_001408495.1:c.545-2857A>G
  • NM_001408496.1:c.523+855A>G
  • NM_001408497.1:c.523+855A>G
  • NM_001408498.1:c.523+855A>G
  • NM_001408499.1:c.523+855A>G
  • NM_001408500.1:c.523+855A>G
  • NM_001408501.1:c.523+855A>G
  • NM_001408502.1:c.454+855A>G
  • NM_001408503.1:c.520+855A>G
  • NM_001408504.1:c.520+855A>G
  • NM_001408505.1:c.520+855A>G
  • NM_001408506.1:c.460+1957A>G
  • NM_001408507.1:c.460+1957A>G
  • NM_001408508.1:c.451+855A>G
  • NM_001408509.1:c.451+855A>G
  • NM_001408510.1:c.406+855A>G
  • NM_001408511.1:c.404-2857A>G
  • NM_001408512.1:c.283+855A>G
  • NM_001408513.1:c.577+855A>G
  • NM_001408514.1:c.577+855A>G
  • NM_007294.4:c.1642A>GMANE SELECT
  • NM_007297.4:c.1501A>G
  • NM_007298.4:c.787+855A>G
  • NM_007299.4:c.787+855A>G
  • NM_007300.4:c.1642A>G
  • NP_001394500.1:p.Ile477Val
  • NP_001394510.1:p.Ile548Val
  • NP_001394511.1:p.Ile548Val
  • NP_001394512.1:p.Ile548Val
  • NP_001394514.1:p.Ile548Val
  • NP_001394516.1:p.Ile547Val
  • NP_001394519.1:p.Ile547Val
  • NP_001394520.1:p.Ile547Val
  • NP_001394522.1:p.Ile548Val
  • NP_001394523.1:p.Ile548Val
  • NP_001394525.1:p.Ile548Val
  • NP_001394526.1:p.Ile548Val
  • NP_001394527.1:p.Ile548Val
  • NP_001394531.1:p.Ile548Val
  • NP_001394532.1:p.Ile548Val
  • NP_001394534.1:p.Ile548Val
  • NP_001394539.1:p.Ile547Val
  • NP_001394540.1:p.Ile547Val
  • NP_001394541.1:p.Ile547Val
  • NP_001394542.1:p.Ile547Val
  • NP_001394543.1:p.Ile547Val
  • NP_001394544.1:p.Ile547Val
  • NP_001394545.1:p.Ile548Val
  • NP_001394546.1:p.Ile548Val
  • NP_001394547.1:p.Ile548Val
  • NP_001394548.1:p.Ile548Val
  • NP_001394549.1:p.Ile548Val
  • NP_001394550.1:p.Ile548Val
  • NP_001394551.1:p.Ile548Val
  • NP_001394552.1:p.Ile548Val
  • NP_001394553.1:p.Ile548Val
  • NP_001394554.1:p.Ile548Val
  • NP_001394555.1:p.Ile548Val
  • NP_001394556.1:p.Ile547Val
  • NP_001394557.1:p.Ile547Val
  • NP_001394558.1:p.Ile547Val
  • NP_001394559.1:p.Ile547Val
  • NP_001394560.1:p.Ile547Val
  • NP_001394561.1:p.Ile547Val
  • NP_001394562.1:p.Ile547Val
  • NP_001394563.1:p.Ile547Val
  • NP_001394564.1:p.Ile547Val
  • NP_001394565.1:p.Ile547Val
  • NP_001394566.1:p.Ile547Val
  • NP_001394567.1:p.Ile547Val
  • NP_001394568.1:p.Ile548Val
  • NP_001394569.1:p.Ile548Val
  • NP_001394570.1:p.Ile548Val
  • NP_001394571.1:p.Ile548Val
  • NP_001394573.1:p.Ile547Val
  • NP_001394574.1:p.Ile547Val
  • NP_001394575.1:p.Ile545Val
  • NP_001394576.1:p.Ile545Val
  • NP_001394577.1:p.Ile507Val
  • NP_001394578.1:p.Ile506Val
  • NP_001394581.1:p.Ile548Val
  • NP_001394582.1:p.Ile522Val
  • NP_001394583.1:p.Ile522Val
  • NP_001394584.1:p.Ile522Val
  • NP_001394585.1:p.Ile522Val
  • NP_001394586.1:p.Ile522Val
  • NP_001394587.1:p.Ile522Val
  • NP_001394588.1:p.Ile521Val
  • NP_001394589.1:p.Ile521Val
  • NP_001394590.1:p.Ile521Val
  • NP_001394591.1:p.Ile521Val
  • NP_001394592.1:p.Ile522Val
  • NP_001394593.1:p.Ile507Val
  • NP_001394594.1:p.Ile507Val
  • NP_001394595.1:p.Ile507Val
  • NP_001394596.1:p.Ile507Val
  • NP_001394597.1:p.Ile507Val
  • NP_001394598.1:p.Ile507Val
  • NP_001394599.1:p.Ile506Val
  • NP_001394600.1:p.Ile506Val
  • NP_001394601.1:p.Ile506Val
  • NP_001394602.1:p.Ile506Val
  • NP_001394603.1:p.Ile507Val
  • NP_001394604.1:p.Ile507Val
  • NP_001394605.1:p.Ile507Val
  • NP_001394606.1:p.Ile507Val
  • NP_001394607.1:p.Ile507Val
  • NP_001394608.1:p.Ile507Val
  • NP_001394609.1:p.Ile507Val
  • NP_001394610.1:p.Ile507Val
  • NP_001394611.1:p.Ile507Val
  • NP_001394612.1:p.Ile507Val
  • NP_001394613.1:p.Ile548Val
  • NP_001394614.1:p.Ile506Val
  • NP_001394615.1:p.Ile506Val
  • NP_001394616.1:p.Ile506Val
  • NP_001394617.1:p.Ile506Val
  • NP_001394618.1:p.Ile506Val
  • NP_001394619.1:p.Ile506Val
  • NP_001394620.1:p.Ile506Val
  • NP_001394621.1:p.Ile501Val
  • NP_001394623.1:p.Ile501Val
  • NP_001394624.1:p.Ile501Val
  • NP_001394625.1:p.Ile501Val
  • NP_001394626.1:p.Ile501Val
  • NP_001394627.1:p.Ile501Val
  • NP_001394653.1:p.Ile501Val
  • NP_001394654.1:p.Ile501Val
  • NP_001394655.1:p.Ile501Val
  • NP_001394656.1:p.Ile501Val
  • NP_001394657.1:p.Ile501Val
  • NP_001394658.1:p.Ile501Val
  • NP_001394659.1:p.Ile501Val
  • NP_001394660.1:p.Ile501Val
  • NP_001394661.1:p.Ile501Val
  • NP_001394662.1:p.Ile501Val
  • NP_001394663.1:p.Ile501Val
  • NP_001394664.1:p.Ile501Val
  • NP_001394665.1:p.Ile501Val
  • NP_001394666.1:p.Ile501Val
  • NP_001394667.1:p.Ile501Val
  • NP_001394668.1:p.Ile501Val
  • NP_001394669.1:p.Ile500Val
  • NP_001394670.1:p.Ile500Val
  • NP_001394671.1:p.Ile500Val
  • NP_001394672.1:p.Ile500Val
  • NP_001394673.1:p.Ile500Val
  • NP_001394674.1:p.Ile500Val
  • NP_001394675.1:p.Ile500Val
  • NP_001394676.1:p.Ile500Val
  • NP_001394677.1:p.Ile500Val
  • NP_001394678.1:p.Ile500Val
  • NP_001394679.1:p.Ile501Val
  • NP_001394680.1:p.Ile501Val
  • NP_001394681.1:p.Ile501Val
  • NP_001394767.1:p.Ile500Val
  • NP_001394768.1:p.Ile500Val
  • NP_001394770.1:p.Ile500Val
  • NP_001394771.1:p.Ile500Val
  • NP_001394772.1:p.Ile500Val
  • NP_001394773.1:p.Ile500Val
  • NP_001394774.1:p.Ile500Val
  • NP_001394775.1:p.Ile500Val
  • NP_001394776.1:p.Ile500Val
  • NP_001394777.1:p.Ile500Val
  • NP_001394778.1:p.Ile500Val
  • NP_001394779.1:p.Ile501Val
  • NP_001394780.1:p.Ile501Val
  • NP_001394781.1:p.Ile501Val
  • NP_001394782.1:p.Ile477Val
  • NP_001394783.1:p.Ile548Val
  • NP_001394787.1:p.Ile548Val
  • NP_001394788.1:p.Ile548Val
  • NP_001394789.1:p.Ile547Val
  • NP_001394790.1:p.Ile547Val
  • NP_001394791.1:p.Ile481Val
  • NP_001394792.1:p.Ile507Val
  • NP_001394803.1:p.Ile480Val
  • NP_001394804.1:p.Ile480Val
  • NP_001394808.1:p.Ile478Val
  • NP_001394810.1:p.Ile478Val
  • NP_001394811.1:p.Ile478Val
  • NP_001394813.1:p.Ile478Val
  • NP_001394814.1:p.Ile478Val
  • NP_001394815.1:p.Ile478Val
  • NP_001394816.1:p.Ile478Val
  • NP_001394818.1:p.Ile478Val
  • NP_001394823.1:p.Ile477Val
  • NP_001394824.1:p.Ile477Val
  • NP_001394825.1:p.Ile477Val
  • NP_001394826.1:p.Ile477Val
  • NP_001394827.1:p.Ile477Val
  • NP_001394828.1:p.Ile477Val
  • NP_001394829.1:p.Ile478Val
  • NP_001394831.1:p.Ile478Val
  • NP_001394833.1:p.Ile478Val
  • NP_001394835.1:p.Ile478Val
  • NP_001394836.1:p.Ile478Val
  • NP_001394837.1:p.Ile478Val
  • NP_001394838.1:p.Ile478Val
  • NP_001394839.1:p.Ile478Val
  • NP_001394844.1:p.Ile477Val
  • NP_001394845.1:p.Ile477Val
  • NP_001394846.1:p.Ile477Val
  • NP_001394847.1:p.Ile477Val
  • NP_001394848.1:p.Ile507Val
  • NP_001394849.1:p.Ile460Val
  • NP_001394850.1:p.Ile460Val
  • NP_001394851.1:p.Ile460Val
  • NP_001394852.1:p.Ile460Val
  • NP_001394853.1:p.Ile460Val
  • NP_001394854.1:p.Ile460Val
  • NP_001394855.1:p.Ile460Val
  • NP_001394856.1:p.Ile460Val
  • NP_001394857.1:p.Ile460Val
  • NP_001394858.1:p.Ile460Val
  • NP_001394859.1:p.Ile459Val
  • NP_001394860.1:p.Ile459Val
  • NP_001394861.1:p.Ile459Val
  • NP_001394862.1:p.Ile460Val
  • NP_001394863.1:p.Ile459Val
  • NP_001394864.1:p.Ile460Val
  • NP_001394865.1:p.Ile459Val
  • NP_001394866.1:p.Ile507Val
  • NP_001394867.1:p.Ile507Val
  • NP_001394868.1:p.Ile507Val
  • NP_001394869.1:p.Ile506Val
  • NP_001394870.1:p.Ile506Val
  • NP_001394871.1:p.Ile501Val
  • NP_001394872.1:p.Ile500Val
  • NP_001394873.1:p.Ile501Val
  • NP_001394874.1:p.Ile501Val
  • NP_001394875.1:p.Ile437Val
  • NP_001394876.1:p.Ile437Val
  • NP_001394877.1:p.Ile437Val
  • NP_001394878.1:p.Ile437Val
  • NP_001394879.1:p.Ile437Val
  • NP_001394880.1:p.Ile437Val
  • NP_001394881.1:p.Ile437Val
  • NP_001394882.1:p.Ile437Val
  • NP_001394883.1:p.Ile436Val
  • NP_001394884.1:p.Ile436Val
  • NP_001394885.1:p.Ile436Val
  • NP_001394886.1:p.Ile437Val
  • NP_001394887.1:p.Ile436Val
  • NP_001394888.1:p.Ile421Val
  • NP_001394889.1:p.Ile421Val
  • NP_001394891.1:p.Ile420Val
  • NP_001394892.1:p.Ile421Val
  • NP_001394893.1:p.Ile500Val
  • NP_001394894.1:p.Ile380Val
  • NP_001394895.1:p.Ile252Val
  • NP_001394896.1:p.Ile252Val
  • NP_009225.1:p.Ile548Val
  • NP_009225.1:p.Ile548Val
  • NP_009228.2:p.Ile501Val
  • NP_009231.2:p.Ile548Val
  • LRG_292t1:c.1642A>G
  • LRG_292:g.124095A>G
  • LRG_292p1:p.Ile548Val
  • NC_000017.10:g.41245906T>C
  • NM_007294.3:c.1642A>G
  • NR_027676.1:n.1778A>G
  • U14680.1:n.1761A>G
Protein change:
I252V
Links:
dbSNP: rs80356981
NCBI 1000 Genomes Browser:
rs80356981
Molecular consequence:
  • NM_001407968.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+852A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1957A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1957A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1957A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1957A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1957A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1957A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1957A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1957A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2857A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2857A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1957A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1957A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2857A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+855A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1633A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1633A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1561A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1561A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1561A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1561A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1441A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1438A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1438A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1375A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1375A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1375A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1375A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1375A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1519A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1306A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1306A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1306A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1306A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1261A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1261A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1258A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1261A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1138A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.754A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.754A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000144149Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Nov 25, 2004) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144149.1

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

Last Updated: Jun 2, 2024