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NM_007294.4(BRCA1):c.4993G>C (p.Val1665Leu) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001077898.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.4993G>C (p.Val1665Leu)]

NM_007294.4(BRCA1):c.4993G>C (p.Val1665Leu)

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.4993G>C (p.Val1665Leu)
HGVS:
  • NC_000017.11:g.43067689C>G
  • NG_005905.2:g.150295G>C
  • NM_001407571.1:c.4780G>C
  • NM_001407581.1:c.5059G>C
  • NM_001407582.1:c.5059G>C
  • NM_001407583.1:c.5056G>C
  • NM_001407585.1:c.5056G>C
  • NM_001407587.1:c.5056G>C
  • NM_001407590.1:c.5053G>C
  • NM_001407591.1:c.5053G>C
  • NM_001407593.1:c.4993G>C
  • NM_001407594.1:c.4993G>C
  • NM_001407596.1:c.4993G>C
  • NM_001407597.1:c.4993G>C
  • NM_001407598.1:c.4993G>C
  • NM_001407602.1:c.4993G>C
  • NM_001407603.1:c.4993G>C
  • NM_001407605.1:c.4993G>C
  • NM_001407610.1:c.4990G>C
  • NM_001407611.1:c.4990G>C
  • NM_001407612.1:c.4990G>C
  • NM_001407613.1:c.4990G>C
  • NM_001407614.1:c.4990G>C
  • NM_001407615.1:c.4990G>C
  • NM_001407616.1:c.4990G>C
  • NM_001407617.1:c.4990G>C
  • NM_001407618.1:c.4990G>C
  • NM_001407619.1:c.4990G>C
  • NM_001407620.1:c.4990G>C
  • NM_001407621.1:c.4990G>C
  • NM_001407622.1:c.4990G>C
  • NM_001407623.1:c.4990G>C
  • NM_001407624.1:c.4990G>C
  • NM_001407625.1:c.4990G>C
  • NM_001407626.1:c.4990G>C
  • NM_001407627.1:c.4987G>C
  • NM_001407628.1:c.4987G>C
  • NM_001407629.1:c.4987G>C
  • NM_001407630.1:c.4987G>C
  • NM_001407631.1:c.4987G>C
  • NM_001407632.1:c.4987G>C
  • NM_001407633.1:c.4987G>C
  • NM_001407634.1:c.4987G>C
  • NM_001407635.1:c.4987G>C
  • NM_001407636.1:c.4987G>C
  • NM_001407637.1:c.4987G>C
  • NM_001407638.1:c.4987G>C
  • NM_001407639.1:c.4987G>C
  • NM_001407640.1:c.4987G>C
  • NM_001407641.1:c.4987G>C
  • NM_001407642.1:c.4987G>C
  • NM_001407644.1:c.4984G>C
  • NM_001407645.1:c.4984G>C
  • NM_001407646.1:c.4981G>C
  • NM_001407647.1:c.4978G>C
  • NM_001407648.1:c.4936G>C
  • NM_001407649.1:c.4933G>C
  • NM_001407652.1:c.4993G>C
  • NM_001407653.1:c.4915G>C
  • NM_001407654.1:c.4915G>C
  • NM_001407655.1:c.4915G>C
  • NM_001407656.1:c.4912G>C
  • NM_001407657.1:c.4912G>C
  • NM_001407658.1:c.4912G>C
  • NM_001407659.1:c.4909G>C
  • NM_001407660.1:c.4909G>C
  • NM_001407661.1:c.4909G>C
  • NM_001407662.1:c.4909G>C
  • NM_001407663.1:c.4909G>C
  • NM_001407664.1:c.4870G>C
  • NM_001407665.1:c.4870G>C
  • NM_001407666.1:c.4870G>C
  • NM_001407667.1:c.4870G>C
  • NM_001407668.1:c.4870G>C
  • NM_001407669.1:c.4870G>C
  • NM_001407670.1:c.4867G>C
  • NM_001407671.1:c.4867G>C
  • NM_001407672.1:c.4867G>C
  • NM_001407673.1:c.4867G>C
  • NM_001407674.1:c.4867G>C
  • NM_001407675.1:c.4867G>C
  • NM_001407676.1:c.4867G>C
  • NM_001407677.1:c.4867G>C
  • NM_001407678.1:c.4867G>C
  • NM_001407679.1:c.4867G>C
  • NM_001407680.1:c.4867G>C
  • NM_001407681.1:c.4864G>C
  • NM_001407682.1:c.4864G>C
  • NM_001407683.1:c.4864G>C
  • NM_001407684.1:c.4993G>C
  • NM_001407685.1:c.4864G>C
  • NM_001407686.1:c.4864G>C
  • NM_001407687.1:c.4864G>C
  • NM_001407688.1:c.4864G>C
  • NM_001407689.1:c.4864G>C
  • NM_001407690.1:c.4861G>C
  • NM_001407691.1:c.4861G>C
  • NM_001407692.1:c.4852G>C
  • NM_001407694.1:c.4852G>C
  • NM_001407695.1:c.4852G>C
  • NM_001407696.1:c.4852G>C
  • NM_001407697.1:c.4852G>C
  • NM_001407698.1:c.4852G>C
  • NM_001407724.1:c.4852G>C
  • NM_001407725.1:c.4852G>C
  • NM_001407726.1:c.4852G>C
  • NM_001407727.1:c.4852G>C
  • NM_001407728.1:c.4852G>C
  • NM_001407729.1:c.4852G>C
  • NM_001407730.1:c.4852G>C
  • NM_001407731.1:c.4852G>C
  • NM_001407732.1:c.4849G>C
  • NM_001407733.1:c.4849G>C
  • NM_001407734.1:c.4849G>C
  • NM_001407735.1:c.4849G>C
  • NM_001407736.1:c.4849G>C
  • NM_001407737.1:c.4849G>C
  • NM_001407738.1:c.4849G>C
  • NM_001407739.1:c.4849G>C
  • NM_001407740.1:c.4849G>C
  • NM_001407741.1:c.4849G>C
  • NM_001407742.1:c.4849G>C
  • NM_001407743.1:c.4849G>C
  • NM_001407744.1:c.4849G>C
  • NM_001407745.1:c.4849G>C
  • NM_001407746.1:c.4849G>C
  • NM_001407747.1:c.4849G>C
  • NM_001407748.1:c.4849G>C
  • NM_001407749.1:c.4849G>C
  • NM_001407750.1:c.4849G>C
  • NM_001407751.1:c.4849G>C
  • NM_001407752.1:c.4849G>C
  • NM_001407838.1:c.4846G>C
  • NM_001407839.1:c.4846G>C
  • NM_001407841.1:c.4846G>C
  • NM_001407842.1:c.4846G>C
  • NM_001407843.1:c.4846G>C
  • NM_001407844.1:c.4846G>C
  • NM_001407845.1:c.4846G>C
  • NM_001407846.1:c.4846G>C
  • NM_001407847.1:c.4846G>C
  • NM_001407848.1:c.4846G>C
  • NM_001407849.1:c.4846G>C
  • NM_001407850.1:c.4846G>C
  • NM_001407851.1:c.4846G>C
  • NM_001407852.1:c.4846G>C
  • NM_001407853.1:c.4846G>C
  • NM_001407854.1:c.4993G>C
  • NM_001407858.1:c.4990G>C
  • NM_001407859.1:c.4990G>C
  • NM_001407860.1:c.4990G>C
  • NM_001407861.1:c.4987G>C
  • NM_001407862.1:c.4792G>C
  • NM_001407863.1:c.4867G>C
  • NM_001407874.1:c.4786G>C
  • NM_001407875.1:c.4786G>C
  • NM_001407879.1:c.4783G>C
  • NM_001407881.1:c.4783G>C
  • NM_001407882.1:c.4783G>C
  • NM_001407884.1:c.4783G>C
  • NM_001407885.1:c.4783G>C
  • NM_001407886.1:c.4783G>C
  • NM_001407887.1:c.4783G>C
  • NM_001407889.1:c.4783G>C
  • NM_001407894.1:c.4780G>C
  • NM_001407895.1:c.4780G>C
  • NM_001407896.1:c.4780G>C
  • NM_001407897.1:c.4780G>C
  • NM_001407898.1:c.4780G>C
  • NM_001407899.1:c.4780G>C
  • NM_001407900.1:c.4780G>C
  • NM_001407902.1:c.4780G>C
  • NM_001407904.1:c.4780G>C
  • NM_001407906.1:c.4780G>C
  • NM_001407907.1:c.4780G>C
  • NM_001407908.1:c.4780G>C
  • NM_001407909.1:c.4780G>C
  • NM_001407910.1:c.4780G>C
  • NM_001407915.1:c.4777G>C
  • NM_001407916.1:c.4777G>C
  • NM_001407917.1:c.4777G>C
  • NM_001407918.1:c.4777G>C
  • NM_001407919.1:c.4870G>C
  • NM_001407920.1:c.4729G>C
  • NM_001407921.1:c.4729G>C
  • NM_001407922.1:c.4729G>C
  • NM_001407923.1:c.4729G>C
  • NM_001407924.1:c.4729G>C
  • NM_001407925.1:c.4729G>C
  • NM_001407926.1:c.4729G>C
  • NM_001407927.1:c.4726G>C
  • NM_001407928.1:c.4726G>C
  • NM_001407929.1:c.4726G>C
  • NM_001407930.1:c.4726G>C
  • NM_001407931.1:c.4726G>C
  • NM_001407932.1:c.4726G>C
  • NM_001407933.1:c.4726G>C
  • NM_001407934.1:c.4723G>C
  • NM_001407935.1:c.4723G>C
  • NM_001407936.1:c.4723G>C
  • NM_001407937.1:c.4870G>C
  • NM_001407938.1:c.4870G>C
  • NM_001407939.1:c.4867G>C
  • NM_001407940.1:c.4867G>C
  • NM_001407941.1:c.4864G>C
  • NM_001407942.1:c.4852G>C
  • NM_001407943.1:c.4849G>C
  • NM_001407944.1:c.4849G>C
  • NM_001407945.1:c.4849G>C
  • NM_001407946.1:c.4660G>C
  • NM_001407947.1:c.4660G>C
  • NM_001407948.1:c.4660G>C
  • NM_001407949.1:c.4660G>C
  • NM_001407950.1:c.4657G>C
  • NM_001407951.1:c.4657G>C
  • NM_001407952.1:c.4657G>C
  • NM_001407953.1:c.4657G>C
  • NM_001407954.1:c.4657G>C
  • NM_001407955.1:c.4657G>C
  • NM_001407956.1:c.4654G>C
  • NM_001407957.1:c.4654G>C
  • NM_001407958.1:c.4654G>C
  • NM_001407959.1:c.4612G>C
  • NM_001407960.1:c.4609G>C
  • NM_001407962.1:c.4609G>C
  • NM_001407963.1:c.4606G>C
  • NM_001407964.1:c.4531G>C
  • NM_001407965.1:c.4486G>C
  • NM_001407966.1:c.4105G>C
  • NM_001407967.1:c.4102G>C
  • NM_001407968.1:c.2389G>C
  • NM_001407969.1:c.2386G>C
  • NM_001407970.1:c.1750G>C
  • NM_001407971.1:c.1750G>C
  • NM_001407972.1:c.1747G>C
  • NM_001407973.1:c.1684G>C
  • NM_001407974.1:c.1684G>C
  • NM_001407975.1:c.1684G>C
  • NM_001407976.1:c.1684G>C
  • NM_001407977.1:c.1684G>C
  • NM_001407978.1:c.1684G>C
  • NM_001407979.1:c.1681G>C
  • NM_001407980.1:c.1681G>C
  • NM_001407981.1:c.1681G>C
  • NM_001407982.1:c.1681G>C
  • NM_001407983.1:c.1681G>C
  • NM_001407984.1:c.1681G>C
  • NM_001407985.1:c.1681G>C
  • NM_001407986.1:c.1681G>C
  • NM_001407990.1:c.1681G>C
  • NM_001407991.1:c.1681G>C
  • NM_001407992.1:c.1681G>C
  • NM_001407993.1:c.1681G>C
  • NM_001408392.1:c.1678G>C
  • NM_001408396.1:c.1678G>C
  • NM_001408397.1:c.1678G>C
  • NM_001408398.1:c.1678G>C
  • NM_001408399.1:c.1678G>C
  • NM_001408400.1:c.1678G>C
  • NM_001408401.1:c.1678G>C
  • NM_001408402.1:c.1678G>C
  • NM_001408403.1:c.1678G>C
  • NM_001408404.1:c.1678G>C
  • NM_001408406.1:c.1675G>C
  • NM_001408407.1:c.1675G>C
  • NM_001408408.1:c.1675G>C
  • NM_001408409.1:c.1672G>C
  • NM_001408410.1:c.1609G>C
  • NM_001408411.1:c.1606G>C
  • NM_001408412.1:c.1603G>C
  • NM_001408413.1:c.1603G>C
  • NM_001408414.1:c.1603G>C
  • NM_001408415.1:c.1603G>C
  • NM_001408416.1:c.1603G>C
  • NM_001408418.1:c.1567G>C
  • NM_001408419.1:c.1567G>C
  • NM_001408420.1:c.1567G>C
  • NM_001408421.1:c.1564G>C
  • NM_001408422.1:c.1564G>C
  • NM_001408423.1:c.1564G>C
  • NM_001408424.1:c.1564G>C
  • NM_001408425.1:c.1561G>C
  • NM_001408426.1:c.1561G>C
  • NM_001408427.1:c.1561G>C
  • NM_001408428.1:c.1561G>C
  • NM_001408429.1:c.1561G>C
  • NM_001408430.1:c.1561G>C
  • NM_001408431.1:c.1561G>C
  • NM_001408432.1:c.1558G>C
  • NM_001408433.1:c.1558G>C
  • NM_001408434.1:c.1558G>C
  • NM_001408435.1:c.1558G>C
  • NM_001408436.1:c.1558G>C
  • NM_001408437.1:c.1558G>C
  • NM_001408438.1:c.1558G>C
  • NM_001408439.1:c.1558G>C
  • NM_001408440.1:c.1558G>C
  • NM_001408441.1:c.1558G>C
  • NM_001408442.1:c.1558G>C
  • NM_001408443.1:c.1558G>C
  • NM_001408444.1:c.1558G>C
  • NM_001408445.1:c.1555G>C
  • NM_001408446.1:c.1555G>C
  • NM_001408447.1:c.1555G>C
  • NM_001408448.1:c.1555G>C
  • NM_001408450.1:c.1555G>C
  • NM_001408451.1:c.1549G>C
  • NM_001408452.1:c.1543G>C
  • NM_001408453.1:c.1543G>C
  • NM_001408454.1:c.1543G>C
  • NM_001408455.1:c.1543G>C
  • NM_001408456.1:c.1543G>C
  • NM_001408457.1:c.1543G>C
  • NM_001408458.1:c.1540G>C
  • NM_001408459.1:c.1540G>C
  • NM_001408460.1:c.1540G>C
  • NM_001408461.1:c.1540G>C
  • NM_001408462.1:c.1540G>C
  • NM_001408463.1:c.1540G>C
  • NM_001408464.1:c.1540G>C
  • NM_001408465.1:c.1540G>C
  • NM_001408466.1:c.1540G>C
  • NM_001408467.1:c.1540G>C
  • NM_001408468.1:c.1537G>C
  • NM_001408469.1:c.1537G>C
  • NM_001408470.1:c.1537G>C
  • NM_001408472.1:c.1681G>C
  • NM_001408473.1:c.1678G>C
  • NM_001408474.1:c.1483G>C
  • NM_001408475.1:c.1480G>C
  • NM_001408476.1:c.1480G>C
  • NM_001408478.1:c.1474G>C
  • NM_001408479.1:c.1474G>C
  • NM_001408480.1:c.1474G>C
  • NM_001408481.1:c.1471G>C
  • NM_001408482.1:c.1471G>C
  • NM_001408483.1:c.1471G>C
  • NM_001408484.1:c.1471G>C
  • NM_001408485.1:c.1471G>C
  • NM_001408489.1:c.1471G>C
  • NM_001408490.1:c.1471G>C
  • NM_001408491.1:c.1471G>C
  • NM_001408492.1:c.1468G>C
  • NM_001408493.1:c.1468G>C
  • NM_001408494.1:c.1444G>C
  • NM_001408495.1:c.1438G>C
  • NM_001408496.1:c.1420G>C
  • NM_001408497.1:c.1420G>C
  • NM_001408498.1:c.1420G>C
  • NM_001408499.1:c.1420G>C
  • NM_001408500.1:c.1420G>C
  • NM_001408501.1:c.1420G>C
  • NM_001408502.1:c.1417G>C
  • NM_001408503.1:c.1417G>C
  • NM_001408504.1:c.1417G>C
  • NM_001408505.1:c.1414G>C
  • NM_001408506.1:c.1357G>C
  • NM_001408507.1:c.1354G>C
  • NM_001408508.1:c.1345G>C
  • NM_001408509.1:c.1342G>C
  • NM_001408510.1:c.1303G>C
  • NM_001408511.1:c.1300G>C
  • NM_001408512.1:c.1180G>C
  • NM_001408513.1:c.1153G>C
  • NM_007294.4:c.4993G>CMANE SELECT
  • NM_007297.4:c.4852G>C
  • NM_007298.4:c.1681G>C
  • NM_007299.4:c.1681G>C
  • NM_007300.4:c.5056G>C
  • NM_007304.2:c.1681G>C
  • NP_001394500.1:p.Val1594Leu
  • NP_001394510.1:p.Val1687Leu
  • NP_001394511.1:p.Val1687Leu
  • NP_001394512.1:p.Val1686Leu
  • NP_001394514.1:p.Val1686Leu
  • NP_001394516.1:p.Val1686Leu
  • NP_001394519.1:p.Val1685Leu
  • NP_001394520.1:p.Val1685Leu
  • NP_001394522.1:p.Val1665Leu
  • NP_001394523.1:p.Val1665Leu
  • NP_001394525.1:p.Val1665Leu
  • NP_001394526.1:p.Val1665Leu
  • NP_001394527.1:p.Val1665Leu
  • NP_001394531.1:p.Val1665Leu
  • NP_001394532.1:p.Val1665Leu
  • NP_001394534.1:p.Val1665Leu
  • NP_001394539.1:p.Val1664Leu
  • NP_001394540.1:p.Val1664Leu
  • NP_001394541.1:p.Val1664Leu
  • NP_001394542.1:p.Val1664Leu
  • NP_001394543.1:p.Val1664Leu
  • NP_001394544.1:p.Val1664Leu
  • NP_001394545.1:p.Val1664Leu
  • NP_001394546.1:p.Val1664Leu
  • NP_001394547.1:p.Val1664Leu
  • NP_001394548.1:p.Val1664Leu
  • NP_001394549.1:p.Val1664Leu
  • NP_001394550.1:p.Val1664Leu
  • NP_001394551.1:p.Val1664Leu
  • NP_001394552.1:p.Val1664Leu
  • NP_001394553.1:p.Val1664Leu
  • NP_001394554.1:p.Val1664Leu
  • NP_001394555.1:p.Val1664Leu
  • NP_001394556.1:p.Val1663Leu
  • NP_001394557.1:p.Val1663Leu
  • NP_001394558.1:p.Val1663Leu
  • NP_001394559.1:p.Val1663Leu
  • NP_001394560.1:p.Val1663Leu
  • NP_001394561.1:p.Val1663Leu
  • NP_001394562.1:p.Val1663Leu
  • NP_001394563.1:p.Val1663Leu
  • NP_001394564.1:p.Val1663Leu
  • NP_001394565.1:p.Val1663Leu
  • NP_001394566.1:p.Val1663Leu
  • NP_001394567.1:p.Val1663Leu
  • NP_001394568.1:p.Val1663Leu
  • NP_001394569.1:p.Val1663Leu
  • NP_001394570.1:p.Val1663Leu
  • NP_001394571.1:p.Val1663Leu
  • NP_001394573.1:p.Val1662Leu
  • NP_001394574.1:p.Val1662Leu
  • NP_001394575.1:p.Val1661Leu
  • NP_001394576.1:p.Val1660Leu
  • NP_001394577.1:p.Val1646Leu
  • NP_001394578.1:p.Val1645Leu
  • NP_001394581.1:p.Val1665Leu
  • NP_001394582.1:p.Val1639Leu
  • NP_001394583.1:p.Val1639Leu
  • NP_001394584.1:p.Val1639Leu
  • NP_001394585.1:p.Val1638Leu
  • NP_001394586.1:p.Val1638Leu
  • NP_001394587.1:p.Val1638Leu
  • NP_001394588.1:p.Val1637Leu
  • NP_001394589.1:p.Val1637Leu
  • NP_001394590.1:p.Val1637Leu
  • NP_001394591.1:p.Val1637Leu
  • NP_001394592.1:p.Val1637Leu
  • NP_001394593.1:p.Val1624Leu
  • NP_001394594.1:p.Val1624Leu
  • NP_001394595.1:p.Val1624Leu
  • NP_001394596.1:p.Val1624Leu
  • NP_001394597.1:p.Val1624Leu
  • NP_001394598.1:p.Val1624Leu
  • NP_001394599.1:p.Val1623Leu
  • NP_001394600.1:p.Val1623Leu
  • NP_001394601.1:p.Val1623Leu
  • NP_001394602.1:p.Val1623Leu
  • NP_001394603.1:p.Val1623Leu
  • NP_001394604.1:p.Val1623Leu
  • NP_001394605.1:p.Val1623Leu
  • NP_001394606.1:p.Val1623Leu
  • NP_001394607.1:p.Val1623Leu
  • NP_001394608.1:p.Val1623Leu
  • NP_001394609.1:p.Val1623Leu
  • NP_001394610.1:p.Val1622Leu
  • NP_001394611.1:p.Val1622Leu
  • NP_001394612.1:p.Val1622Leu
  • NP_001394613.1:p.Val1665Leu
  • NP_001394614.1:p.Val1622Leu
  • NP_001394615.1:p.Val1622Leu
  • NP_001394616.1:p.Val1622Leu
  • NP_001394617.1:p.Val1622Leu
  • NP_001394618.1:p.Val1622Leu
  • NP_001394619.1:p.Val1621Leu
  • NP_001394620.1:p.Val1621Leu
  • NP_001394621.1:p.Val1618Leu
  • NP_001394623.1:p.Val1618Leu
  • NP_001394624.1:p.Val1618Leu
  • NP_001394625.1:p.Val1618Leu
  • NP_001394626.1:p.Val1618Leu
  • NP_001394627.1:p.Val1618Leu
  • NP_001394653.1:p.Val1618Leu
  • NP_001394654.1:p.Val1618Leu
  • NP_001394655.1:p.Val1618Leu
  • NP_001394656.1:p.Val1618Leu
  • NP_001394657.1:p.Val1618Leu
  • NP_001394658.1:p.Val1618Leu
  • NP_001394659.1:p.Val1618Leu
  • NP_001394660.1:p.Val1618Leu
  • NP_001394661.1:p.Val1617Leu
  • NP_001394662.1:p.Val1617Leu
  • NP_001394663.1:p.Val1617Leu
  • NP_001394664.1:p.Val1617Leu
  • NP_001394665.1:p.Val1617Leu
  • NP_001394666.1:p.Val1617Leu
  • NP_001394667.1:p.Val1617Leu
  • NP_001394668.1:p.Val1617Leu
  • NP_001394669.1:p.Val1617Leu
  • NP_001394670.1:p.Val1617Leu
  • NP_001394671.1:p.Val1617Leu
  • NP_001394672.1:p.Val1617Leu
  • NP_001394673.1:p.Val1617Leu
  • NP_001394674.1:p.Val1617Leu
  • NP_001394675.1:p.Val1617Leu
  • NP_001394676.1:p.Val1617Leu
  • NP_001394677.1:p.Val1617Leu
  • NP_001394678.1:p.Val1617Leu
  • NP_001394679.1:p.Val1617Leu
  • NP_001394680.1:p.Val1617Leu
  • NP_001394681.1:p.Val1617Leu
  • NP_001394767.1:p.Val1616Leu
  • NP_001394768.1:p.Val1616Leu
  • NP_001394770.1:p.Val1616Leu
  • NP_001394771.1:p.Val1616Leu
  • NP_001394772.1:p.Val1616Leu
  • NP_001394773.1:p.Val1616Leu
  • NP_001394774.1:p.Val1616Leu
  • NP_001394775.1:p.Val1616Leu
  • NP_001394776.1:p.Val1616Leu
  • NP_001394777.1:p.Val1616Leu
  • NP_001394778.1:p.Val1616Leu
  • NP_001394779.1:p.Val1616Leu
  • NP_001394780.1:p.Val1616Leu
  • NP_001394781.1:p.Val1616Leu
  • NP_001394782.1:p.Val1616Leu
  • NP_001394783.1:p.Val1665Leu
  • NP_001394787.1:p.Val1664Leu
  • NP_001394788.1:p.Val1664Leu
  • NP_001394789.1:p.Val1664Leu
  • NP_001394790.1:p.Val1663Leu
  • NP_001394791.1:p.Val1598Leu
  • NP_001394792.1:p.Val1623Leu
  • NP_001394803.1:p.Val1596Leu
  • NP_001394804.1:p.Val1596Leu
  • NP_001394808.1:p.Val1595Leu
  • NP_001394810.1:p.Val1595Leu
  • NP_001394811.1:p.Val1595Leu
  • NP_001394813.1:p.Val1595Leu
  • NP_001394814.1:p.Val1595Leu
  • NP_001394815.1:p.Val1595Leu
  • NP_001394816.1:p.Val1595Leu
  • NP_001394818.1:p.Val1595Leu
  • NP_001394823.1:p.Val1594Leu
  • NP_001394824.1:p.Val1594Leu
  • NP_001394825.1:p.Val1594Leu
  • NP_001394826.1:p.Val1594Leu
  • NP_001394827.1:p.Val1594Leu
  • NP_001394828.1:p.Val1594Leu
  • NP_001394829.1:p.Val1594Leu
  • NP_001394831.1:p.Val1594Leu
  • NP_001394833.1:p.Val1594Leu
  • NP_001394835.1:p.Val1594Leu
  • NP_001394836.1:p.Val1594Leu
  • NP_001394837.1:p.Val1594Leu
  • NP_001394838.1:p.Val1594Leu
  • NP_001394839.1:p.Val1594Leu
  • NP_001394844.1:p.Val1593Leu
  • NP_001394845.1:p.Val1593Leu
  • NP_001394846.1:p.Val1593Leu
  • NP_001394847.1:p.Val1593Leu
  • NP_001394848.1:p.Val1624Leu
  • NP_001394849.1:p.Val1577Leu
  • NP_001394850.1:p.Val1577Leu
  • NP_001394851.1:p.Val1577Leu
  • NP_001394852.1:p.Val1577Leu
  • NP_001394853.1:p.Val1577Leu
  • NP_001394854.1:p.Val1577Leu
  • NP_001394855.1:p.Val1577Leu
  • NP_001394856.1:p.Val1576Leu
  • NP_001394857.1:p.Val1576Leu
  • NP_001394858.1:p.Val1576Leu
  • NP_001394859.1:p.Val1576Leu
  • NP_001394860.1:p.Val1576Leu
  • NP_001394861.1:p.Val1576Leu
  • NP_001394862.1:p.Val1576Leu
  • NP_001394863.1:p.Val1575Leu
  • NP_001394864.1:p.Val1575Leu
  • NP_001394865.1:p.Val1575Leu
  • NP_001394866.1:p.Val1624Leu
  • NP_001394867.1:p.Val1624Leu
  • NP_001394868.1:p.Val1623Leu
  • NP_001394869.1:p.Val1623Leu
  • NP_001394870.1:p.Val1622Leu
  • NP_001394871.1:p.Val1618Leu
  • NP_001394872.1:p.Val1617Leu
  • NP_001394873.1:p.Val1617Leu
  • NP_001394874.1:p.Val1617Leu
  • NP_001394875.1:p.Val1554Leu
  • NP_001394876.1:p.Val1554Leu
  • NP_001394877.1:p.Val1554Leu
  • NP_001394878.1:p.Val1554Leu
  • NP_001394879.1:p.Val1553Leu
  • NP_001394880.1:p.Val1553Leu
  • NP_001394881.1:p.Val1553Leu
  • NP_001394882.1:p.Val1553Leu
  • NP_001394883.1:p.Val1553Leu
  • NP_001394884.1:p.Val1553Leu
  • NP_001394885.1:p.Val1552Leu
  • NP_001394886.1:p.Val1552Leu
  • NP_001394887.1:p.Val1552Leu
  • NP_001394888.1:p.Val1538Leu
  • NP_001394889.1:p.Val1537Leu
  • NP_001394891.1:p.Val1537Leu
  • NP_001394892.1:p.Val1536Leu
  • NP_001394893.1:p.Val1511Leu
  • NP_001394894.1:p.Val1496Leu
  • NP_001394895.1:p.Val1369Leu
  • NP_001394896.1:p.Val1368Leu
  • NP_001394897.1:p.Val797Leu
  • NP_001394898.1:p.Val796Leu
  • NP_001394899.1:p.Val584Leu
  • NP_001394900.1:p.Val584Leu
  • NP_001394901.1:p.Val583Leu
  • NP_001394902.1:p.Val562Leu
  • NP_001394903.1:p.Val562Leu
  • NP_001394904.1:p.Val562Leu
  • NP_001394905.1:p.Val562Leu
  • NP_001394906.1:p.Val562Leu
  • NP_001394907.1:p.Val562Leu
  • NP_001394908.1:p.Val561Leu
  • NP_001394909.1:p.Val561Leu
  • NP_001394910.1:p.Val561Leu
  • NP_001394911.1:p.Val561Leu
  • NP_001394912.1:p.Val561Leu
  • NP_001394913.1:p.Val561Leu
  • NP_001394914.1:p.Val561Leu
  • NP_001394915.1:p.Val561Leu
  • NP_001394919.1:p.Val561Leu
  • NP_001394920.1:p.Val561Leu
  • NP_001394921.1:p.Val561Leu
  • NP_001394922.1:p.Val561Leu
  • NP_001395321.1:p.Val560Leu
  • NP_001395325.1:p.Val560Leu
  • NP_001395326.1:p.Val560Leu
  • NP_001395327.1:p.Val560Leu
  • NP_001395328.1:p.Val560Leu
  • NP_001395329.1:p.Val560Leu
  • NP_001395330.1:p.Val560Leu
  • NP_001395331.1:p.Val560Leu
  • NP_001395332.1:p.Val560Leu
  • NP_001395333.1:p.Val560Leu
  • NP_001395335.1:p.Val559Leu
  • NP_001395336.1:p.Val559Leu
  • NP_001395337.1:p.Val559Leu
  • NP_001395338.1:p.Val558Leu
  • NP_001395339.1:p.Val537Leu
  • NP_001395340.1:p.Val536Leu
  • NP_001395341.1:p.Val535Leu
  • NP_001395342.1:p.Val535Leu
  • NP_001395343.1:p.Val535Leu
  • NP_001395344.1:p.Val535Leu
  • NP_001395345.1:p.Val535Leu
  • NP_001395347.1:p.Val523Leu
  • NP_001395348.1:p.Val523Leu
  • NP_001395349.1:p.Val523Leu
  • NP_001395350.1:p.Val522Leu
  • NP_001395351.1:p.Val522Leu
  • NP_001395352.1:p.Val522Leu
  • NP_001395353.1:p.Val522Leu
  • NP_001395354.1:p.Val521Leu
  • NP_001395355.1:p.Val521Leu
  • NP_001395356.1:p.Val521Leu
  • NP_001395357.1:p.Val521Leu
  • NP_001395358.1:p.Val521Leu
  • NP_001395359.1:p.Val521Leu
  • NP_001395360.1:p.Val521Leu
  • NP_001395361.1:p.Val520Leu
  • NP_001395362.1:p.Val520Leu
  • NP_001395363.1:p.Val520Leu
  • NP_001395364.1:p.Val520Leu
  • NP_001395365.1:p.Val520Leu
  • NP_001395366.1:p.Val520Leu
  • NP_001395367.1:p.Val520Leu
  • NP_001395368.1:p.Val520Leu
  • NP_001395369.1:p.Val520Leu
  • NP_001395370.1:p.Val520Leu
  • NP_001395371.1:p.Val520Leu
  • NP_001395372.1:p.Val520Leu
  • NP_001395373.1:p.Val520Leu
  • NP_001395374.1:p.Val519Leu
  • NP_001395375.1:p.Val519Leu
  • NP_001395376.1:p.Val519Leu
  • NP_001395377.1:p.Val519Leu
  • NP_001395379.1:p.Val519Leu
  • NP_001395380.1:p.Val517Leu
  • NP_001395381.1:p.Val515Leu
  • NP_001395382.1:p.Val515Leu
  • NP_001395383.1:p.Val515Leu
  • NP_001395384.1:p.Val515Leu
  • NP_001395385.1:p.Val515Leu
  • NP_001395386.1:p.Val515Leu
  • NP_001395387.1:p.Val514Leu
  • NP_001395388.1:p.Val514Leu
  • NP_001395389.1:p.Val514Leu
  • NP_001395390.1:p.Val514Leu
  • NP_001395391.1:p.Val514Leu
  • NP_001395392.1:p.Val514Leu
  • NP_001395393.1:p.Val514Leu
  • NP_001395394.1:p.Val514Leu
  • NP_001395395.1:p.Val514Leu
  • NP_001395396.1:p.Val514Leu
  • NP_001395397.1:p.Val513Leu
  • NP_001395398.1:p.Val513Leu
  • NP_001395399.1:p.Val513Leu
  • NP_001395401.1:p.Val561Leu
  • NP_001395402.1:p.Val560Leu
  • NP_001395403.1:p.Val495Leu
  • NP_001395404.1:p.Val494Leu
  • NP_001395405.1:p.Val494Leu
  • NP_001395407.1:p.Val492Leu
  • NP_001395408.1:p.Val492Leu
  • NP_001395409.1:p.Val492Leu
  • NP_001395410.1:p.Val491Leu
  • NP_001395411.1:p.Val491Leu
  • NP_001395412.1:p.Val491Leu
  • NP_001395413.1:p.Val491Leu
  • NP_001395414.1:p.Val491Leu
  • NP_001395418.1:p.Val491Leu
  • NP_001395419.1:p.Val491Leu
  • NP_001395420.1:p.Val491Leu
  • NP_001395421.1:p.Val490Leu
  • NP_001395422.1:p.Val490Leu
  • NP_001395423.1:p.Val482Leu
  • NP_001395424.1:p.Val480Leu
  • NP_001395425.1:p.Val474Leu
  • NP_001395426.1:p.Val474Leu
  • NP_001395427.1:p.Val474Leu
  • NP_001395428.1:p.Val474Leu
  • NP_001395429.1:p.Val474Leu
  • NP_001395430.1:p.Val474Leu
  • NP_001395431.1:p.Val473Leu
  • NP_001395432.1:p.Val473Leu
  • NP_001395433.1:p.Val473Leu
  • NP_001395434.1:p.Val472Leu
  • NP_001395435.1:p.Val453Leu
  • NP_001395436.1:p.Val452Leu
  • NP_001395437.1:p.Val449Leu
  • NP_001395438.1:p.Val448Leu
  • NP_001395439.1:p.Val435Leu
  • NP_001395440.1:p.Val434Leu
  • NP_001395441.1:p.Val394Leu
  • NP_001395442.1:p.Val385Leu
  • NP_009225.1:p.Val1665Leu
  • NP_009225.1:p.Val1665Leu
  • NP_009228.2:p.Val1618Leu
  • NP_009229.2:p.Val561Leu
  • NP_009229.2:p.Val561Leu
  • NP_009230.2:p.Val561Leu
  • NP_009231.2:p.Val1686Leu
  • NP_009235.2:p.Val561Leu
  • LRG_292t1:c.4993G>C
  • LRG_292:g.150295G>C
  • LRG_292p1:p.Val1665Leu
  • NC_000017.10:g.41219706C>G
  • NM_007294.3:c.4993G>C
  • NM_007298.3:c.1681G>C
  • NR_027676.2:n.5170G>C
Protein change:
V1368L
Links:
dbSNP: rs80357169
NCBI 1000 Genomes Browser:
rs80357169
Molecular consequence:
  • NM_001407571.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5059G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5053G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5053G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4984G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4984G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4981G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4978G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4936G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4933G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4915G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4915G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4915G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4912G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4912G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4912G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4909G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4909G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4909G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4909G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4909G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4870G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4870G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4870G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4870G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4870G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4870G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4861G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4846G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4990G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4987G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4792G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4786G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4786G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4783G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4777G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4777G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4777G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4777G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4870G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4729G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4729G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4729G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4729G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4729G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4729G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4729G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4726G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4726G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4726G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4726G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4726G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4726G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4726G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4723G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4723G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4723G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4870G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4870G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4867G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4864G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4849G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4660G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4657G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4657G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4657G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4657G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4657G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4657G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4654G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4654G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4654G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4612G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4609G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4609G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4606G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4531G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4486G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4105G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4102G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2389G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2386G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1750G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1747G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1684G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1678G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1678G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1678G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1678G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1678G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1678G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1678G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1678G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1678G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1678G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1675G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1675G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1675G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1672G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1609G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1606G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1603G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1603G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1603G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1603G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1603G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1567G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1567G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1567G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1564G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1561G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1561G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1561G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1561G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1561G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1561G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1561G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1558G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1558G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1558G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1558G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1558G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1558G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1558G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1558G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1558G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1558G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1558G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1558G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1558G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1555G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1555G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1555G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1555G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1555G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1549G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1543G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1543G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1543G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1543G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1543G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1543G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1540G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1537G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1537G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1537G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1678G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1483G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1480G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1480G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1474G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1471G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1468G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1468G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1444G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1438G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1420G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1420G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1420G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1420G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1420G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1420G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1417G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1417G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1417G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1414G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1357G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1354G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1345G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1342G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1303G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1300G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1180G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1153G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4993G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4852G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5056G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1681G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5170G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

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
SCV001243902Brotman Baty Institute, University of Washington
no classification provided
not providednot applicablein vitro

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Details of each submission

From Brotman Baty Institute, University of Washington, SCV001243902.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024