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NM_007294.4(BRCA1):c.5065A>C (p.Met1689Leu) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Nov 23, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000590287.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.5065A>C (p.Met1689Leu)]

NM_007294.4(BRCA1):c.5065A>C (p.Met1689Leu)

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.5065A>C (p.Met1689Leu)
HGVS:
  • NC_000017.11:g.43067617T>G
  • NG_005905.2:g.150367A>C
  • NM_001407571.1:c.4852A>C
  • NM_001407581.1:c.5131A>C
  • NM_001407582.1:c.5131A>C
  • NM_001407583.1:c.5128A>C
  • NM_001407585.1:c.5128A>C
  • NM_001407587.1:c.5128A>C
  • NM_001407590.1:c.5125A>C
  • NM_001407591.1:c.5125A>C
  • NM_001407593.1:c.5065A>C
  • NM_001407594.1:c.5065A>C
  • NM_001407596.1:c.5065A>C
  • NM_001407597.1:c.5065A>C
  • NM_001407598.1:c.5065A>C
  • NM_001407602.1:c.5065A>C
  • NM_001407603.1:c.5065A>C
  • NM_001407605.1:c.5065A>C
  • NM_001407610.1:c.5062A>C
  • NM_001407611.1:c.5062A>C
  • NM_001407612.1:c.5062A>C
  • NM_001407613.1:c.5062A>C
  • NM_001407614.1:c.5062A>C
  • NM_001407615.1:c.5062A>C
  • NM_001407616.1:c.5062A>C
  • NM_001407617.1:c.5062A>C
  • NM_001407618.1:c.5062A>C
  • NM_001407619.1:c.5062A>C
  • NM_001407620.1:c.5062A>C
  • NM_001407621.1:c.5062A>C
  • NM_001407622.1:c.5062A>C
  • NM_001407623.1:c.5062A>C
  • NM_001407624.1:c.5062A>C
  • NM_001407625.1:c.5062A>C
  • NM_001407626.1:c.5062A>C
  • NM_001407627.1:c.5059A>C
  • NM_001407628.1:c.5059A>C
  • NM_001407629.1:c.5059A>C
  • NM_001407630.1:c.5059A>C
  • NM_001407631.1:c.5059A>C
  • NM_001407632.1:c.5059A>C
  • NM_001407633.1:c.5059A>C
  • NM_001407634.1:c.5059A>C
  • NM_001407635.1:c.5059A>C
  • NM_001407636.1:c.5059A>C
  • NM_001407637.1:c.5059A>C
  • NM_001407638.1:c.5059A>C
  • NM_001407639.1:c.5059A>C
  • NM_001407640.1:c.5059A>C
  • NM_001407641.1:c.5059A>C
  • NM_001407642.1:c.5059A>C
  • NM_001407644.1:c.5056A>C
  • NM_001407645.1:c.5056A>C
  • NM_001407646.1:c.5053A>C
  • NM_001407647.1:c.5050A>C
  • NM_001407648.1:c.5008A>C
  • NM_001407649.1:c.5005A>C
  • NM_001407652.1:c.5065A>C
  • NM_001407653.1:c.4987A>C
  • NM_001407654.1:c.4987A>C
  • NM_001407655.1:c.4987A>C
  • NM_001407656.1:c.4984A>C
  • NM_001407657.1:c.4984A>C
  • NM_001407658.1:c.4984A>C
  • NM_001407659.1:c.4981A>C
  • NM_001407660.1:c.4981A>C
  • NM_001407661.1:c.4981A>C
  • NM_001407662.1:c.4981A>C
  • NM_001407663.1:c.4981A>C
  • NM_001407664.1:c.4942A>C
  • NM_001407665.1:c.4942A>C
  • NM_001407666.1:c.4942A>C
  • NM_001407667.1:c.4942A>C
  • NM_001407668.1:c.4942A>C
  • NM_001407669.1:c.4942A>C
  • NM_001407670.1:c.4939A>C
  • NM_001407671.1:c.4939A>C
  • NM_001407672.1:c.4939A>C
  • NM_001407673.1:c.4939A>C
  • NM_001407674.1:c.4939A>C
  • NM_001407675.1:c.4939A>C
  • NM_001407676.1:c.4939A>C
  • NM_001407677.1:c.4939A>C
  • NM_001407678.1:c.4939A>C
  • NM_001407679.1:c.4939A>C
  • NM_001407680.1:c.4939A>C
  • NM_001407681.1:c.4936A>C
  • NM_001407682.1:c.4936A>C
  • NM_001407683.1:c.4936A>C
  • NM_001407684.1:c.5065A>C
  • NM_001407685.1:c.4936A>C
  • NM_001407686.1:c.4936A>C
  • NM_001407687.1:c.4936A>C
  • NM_001407688.1:c.4936A>C
  • NM_001407689.1:c.4936A>C
  • NM_001407690.1:c.4933A>C
  • NM_001407691.1:c.4933A>C
  • NM_001407692.1:c.4924A>C
  • NM_001407694.1:c.4924A>C
  • NM_001407695.1:c.4924A>C
  • NM_001407696.1:c.4924A>C
  • NM_001407697.1:c.4924A>C
  • NM_001407698.1:c.4924A>C
  • NM_001407724.1:c.4924A>C
  • NM_001407725.1:c.4924A>C
  • NM_001407726.1:c.4924A>C
  • NM_001407727.1:c.4924A>C
  • NM_001407728.1:c.4924A>C
  • NM_001407729.1:c.4924A>C
  • NM_001407730.1:c.4924A>C
  • NM_001407731.1:c.4924A>C
  • NM_001407732.1:c.4921A>C
  • NM_001407733.1:c.4921A>C
  • NM_001407734.1:c.4921A>C
  • NM_001407735.1:c.4921A>C
  • NM_001407736.1:c.4921A>C
  • NM_001407737.1:c.4921A>C
  • NM_001407738.1:c.4921A>C
  • NM_001407739.1:c.4921A>C
  • NM_001407740.1:c.4921A>C
  • NM_001407741.1:c.4921A>C
  • NM_001407742.1:c.4921A>C
  • NM_001407743.1:c.4921A>C
  • NM_001407744.1:c.4921A>C
  • NM_001407745.1:c.4921A>C
  • NM_001407746.1:c.4921A>C
  • NM_001407747.1:c.4921A>C
  • NM_001407748.1:c.4921A>C
  • NM_001407749.1:c.4921A>C
  • NM_001407750.1:c.4921A>C
  • NM_001407751.1:c.4921A>C
  • NM_001407752.1:c.4921A>C
  • NM_001407838.1:c.4918A>C
  • NM_001407839.1:c.4918A>C
  • NM_001407841.1:c.4918A>C
  • NM_001407842.1:c.4918A>C
  • NM_001407843.1:c.4918A>C
  • NM_001407844.1:c.4918A>C
  • NM_001407845.1:c.4918A>C
  • NM_001407846.1:c.4918A>C
  • NM_001407847.1:c.4918A>C
  • NM_001407848.1:c.4918A>C
  • NM_001407849.1:c.4918A>C
  • NM_001407850.1:c.4918A>C
  • NM_001407851.1:c.4918A>C
  • NM_001407852.1:c.4918A>C
  • NM_001407853.1:c.4918A>C
  • NM_001407854.1:c.5065A>C
  • NM_001407858.1:c.5062A>C
  • NM_001407859.1:c.5062A>C
  • NM_001407860.1:c.5062A>C
  • NM_001407861.1:c.5059A>C
  • NM_001407862.1:c.4864A>C
  • NM_001407863.1:c.4939A>C
  • NM_001407874.1:c.4858A>C
  • NM_001407875.1:c.4858A>C
  • NM_001407879.1:c.4855A>C
  • NM_001407881.1:c.4855A>C
  • NM_001407882.1:c.4855A>C
  • NM_001407884.1:c.4855A>C
  • NM_001407885.1:c.4855A>C
  • NM_001407886.1:c.4855A>C
  • NM_001407887.1:c.4855A>C
  • NM_001407889.1:c.4855A>C
  • NM_001407894.1:c.4852A>C
  • NM_001407895.1:c.4852A>C
  • NM_001407896.1:c.4852A>C
  • NM_001407897.1:c.4852A>C
  • NM_001407898.1:c.4852A>C
  • NM_001407899.1:c.4852A>C
  • NM_001407900.1:c.4852A>C
  • NM_001407902.1:c.4852A>C
  • NM_001407904.1:c.4852A>C
  • NM_001407906.1:c.4852A>C
  • NM_001407907.1:c.4852A>C
  • NM_001407908.1:c.4852A>C
  • NM_001407909.1:c.4852A>C
  • NM_001407910.1:c.4852A>C
  • NM_001407915.1:c.4849A>C
  • NM_001407916.1:c.4849A>C
  • NM_001407917.1:c.4849A>C
  • NM_001407918.1:c.4849A>C
  • NM_001407919.1:c.4942A>C
  • NM_001407920.1:c.4801A>C
  • NM_001407921.1:c.4801A>C
  • NM_001407922.1:c.4801A>C
  • NM_001407923.1:c.4801A>C
  • NM_001407924.1:c.4801A>C
  • NM_001407925.1:c.4801A>C
  • NM_001407926.1:c.4801A>C
  • NM_001407927.1:c.4798A>C
  • NM_001407928.1:c.4798A>C
  • NM_001407929.1:c.4798A>C
  • NM_001407930.1:c.4798A>C
  • NM_001407931.1:c.4798A>C
  • NM_001407932.1:c.4798A>C
  • NM_001407933.1:c.4798A>C
  • NM_001407934.1:c.4795A>C
  • NM_001407935.1:c.4795A>C
  • NM_001407936.1:c.4795A>C
  • NM_001407937.1:c.4942A>C
  • NM_001407938.1:c.4942A>C
  • NM_001407939.1:c.4939A>C
  • NM_001407940.1:c.4939A>C
  • NM_001407941.1:c.4936A>C
  • NM_001407942.1:c.4924A>C
  • NM_001407943.1:c.4921A>C
  • NM_001407944.1:c.4921A>C
  • NM_001407945.1:c.4921A>C
  • NM_001407946.1:c.4732A>C
  • NM_001407947.1:c.4732A>C
  • NM_001407948.1:c.4732A>C
  • NM_001407949.1:c.4732A>C
  • NM_001407950.1:c.4729A>C
  • NM_001407951.1:c.4729A>C
  • NM_001407952.1:c.4729A>C
  • NM_001407953.1:c.4729A>C
  • NM_001407954.1:c.4729A>C
  • NM_001407955.1:c.4729A>C
  • NM_001407956.1:c.4726A>C
  • NM_001407957.1:c.4726A>C
  • NM_001407958.1:c.4726A>C
  • NM_001407959.1:c.4684A>C
  • NM_001407960.1:c.4681A>C
  • NM_001407962.1:c.4681A>C
  • NM_001407963.1:c.4678A>C
  • NM_001407964.1:c.4603A>C
  • NM_001407965.1:c.4558A>C
  • NM_001407966.1:c.4177A>C
  • NM_001407967.1:c.4174A>C
  • NM_001407968.1:c.2461A>C
  • NM_001407969.1:c.2458A>C
  • NM_001407970.1:c.1822A>C
  • NM_001407971.1:c.1822A>C
  • NM_001407972.1:c.1819A>C
  • NM_001407973.1:c.1756A>C
  • NM_001407974.1:c.1756A>C
  • NM_001407975.1:c.1756A>C
  • NM_001407976.1:c.1756A>C
  • NM_001407977.1:c.1756A>C
  • NM_001407978.1:c.1756A>C
  • NM_001407979.1:c.1753A>C
  • NM_001407980.1:c.1753A>C
  • NM_001407981.1:c.1753A>C
  • NM_001407982.1:c.1753A>C
  • NM_001407983.1:c.1753A>C
  • NM_001407984.1:c.1753A>C
  • NM_001407985.1:c.1753A>C
  • NM_001407986.1:c.1753A>C
  • NM_001407990.1:c.1753A>C
  • NM_001407991.1:c.1753A>C
  • NM_001407992.1:c.1753A>C
  • NM_001407993.1:c.1753A>C
  • NM_001408392.1:c.1750A>C
  • NM_001408396.1:c.1750A>C
  • NM_001408397.1:c.1750A>C
  • NM_001408398.1:c.1750A>C
  • NM_001408399.1:c.1750A>C
  • NM_001408400.1:c.1750A>C
  • NM_001408401.1:c.1750A>C
  • NM_001408402.1:c.1750A>C
  • NM_001408403.1:c.1750A>C
  • NM_001408404.1:c.1750A>C
  • NM_001408406.1:c.1747A>C
  • NM_001408407.1:c.1747A>C
  • NM_001408408.1:c.1747A>C
  • NM_001408409.1:c.1744A>C
  • NM_001408410.1:c.1681A>C
  • NM_001408411.1:c.1678A>C
  • NM_001408412.1:c.1675A>C
  • NM_001408413.1:c.1675A>C
  • NM_001408414.1:c.1675A>C
  • NM_001408415.1:c.1675A>C
  • NM_001408416.1:c.1675A>C
  • NM_001408418.1:c.1639A>C
  • NM_001408419.1:c.1639A>C
  • NM_001408420.1:c.1639A>C
  • NM_001408421.1:c.1636A>C
  • NM_001408422.1:c.1636A>C
  • NM_001408423.1:c.1636A>C
  • NM_001408424.1:c.1636A>C
  • NM_001408425.1:c.1633A>C
  • NM_001408426.1:c.1633A>C
  • NM_001408427.1:c.1633A>C
  • NM_001408428.1:c.1633A>C
  • NM_001408429.1:c.1633A>C
  • NM_001408430.1:c.1633A>C
  • NM_001408431.1:c.1633A>C
  • NM_001408432.1:c.1630A>C
  • NM_001408433.1:c.1630A>C
  • NM_001408434.1:c.1630A>C
  • NM_001408435.1:c.1630A>C
  • NM_001408436.1:c.1630A>C
  • NM_001408437.1:c.1630A>C
  • NM_001408438.1:c.1630A>C
  • NM_001408439.1:c.1630A>C
  • NM_001408440.1:c.1630A>C
  • NM_001408441.1:c.1630A>C
  • NM_001408442.1:c.1630A>C
  • NM_001408443.1:c.1630A>C
  • NM_001408444.1:c.1630A>C
  • NM_001408445.1:c.1627A>C
  • NM_001408446.1:c.1627A>C
  • NM_001408447.1:c.1627A>C
  • NM_001408448.1:c.1627A>C
  • NM_001408450.1:c.1627A>C
  • NM_001408451.1:c.1621A>C
  • NM_001408452.1:c.1615A>C
  • NM_001408453.1:c.1615A>C
  • NM_001408454.1:c.1615A>C
  • NM_001408455.1:c.1615A>C
  • NM_001408456.1:c.1615A>C
  • NM_001408457.1:c.1615A>C
  • NM_001408458.1:c.1612A>C
  • NM_001408459.1:c.1612A>C
  • NM_001408460.1:c.1612A>C
  • NM_001408461.1:c.1612A>C
  • NM_001408462.1:c.1612A>C
  • NM_001408463.1:c.1612A>C
  • NM_001408464.1:c.1612A>C
  • NM_001408465.1:c.1612A>C
  • NM_001408466.1:c.1612A>C
  • NM_001408467.1:c.1612A>C
  • NM_001408468.1:c.1609A>C
  • NM_001408469.1:c.1609A>C
  • NM_001408470.1:c.1609A>C
  • NM_001408472.1:c.1753A>C
  • NM_001408473.1:c.1750A>C
  • NM_001408474.1:c.1555A>C
  • NM_001408475.1:c.1552A>C
  • NM_001408476.1:c.1552A>C
  • NM_001408478.1:c.1546A>C
  • NM_001408479.1:c.1546A>C
  • NM_001408480.1:c.1546A>C
  • NM_001408481.1:c.1543A>C
  • NM_001408482.1:c.1543A>C
  • NM_001408483.1:c.1543A>C
  • NM_001408484.1:c.1543A>C
  • NM_001408485.1:c.1543A>C
  • NM_001408489.1:c.1543A>C
  • NM_001408490.1:c.1543A>C
  • NM_001408491.1:c.1543A>C
  • NM_001408492.1:c.1540A>C
  • NM_001408493.1:c.1540A>C
  • NM_001408494.1:c.1516A>C
  • NM_001408495.1:c.1510A>C
  • NM_001408496.1:c.1492A>C
  • NM_001408497.1:c.1492A>C
  • NM_001408498.1:c.1492A>C
  • NM_001408499.1:c.1492A>C
  • NM_001408500.1:c.1492A>C
  • NM_001408501.1:c.1492A>C
  • NM_001408502.1:c.1489A>C
  • NM_001408503.1:c.1489A>C
  • NM_001408504.1:c.1489A>C
  • NM_001408505.1:c.1486A>C
  • NM_001408506.1:c.1429A>C
  • NM_001408507.1:c.1426A>C
  • NM_001408508.1:c.1417A>C
  • NM_001408509.1:c.1414A>C
  • NM_001408510.1:c.1375A>C
  • NM_001408511.1:c.1372A>C
  • NM_001408512.1:c.1252A>C
  • NM_001408513.1:c.1225A>C
  • NM_007294.4:c.5065A>CMANE SELECT
  • NM_007297.4:c.4924A>C
  • NM_007298.4:c.1753A>C
  • NM_007299.4:c.1753A>C
  • NM_007300.4:c.5128A>C
  • NM_007304.2:c.1753A>C
  • NP_001394500.1:p.Met1618Leu
  • NP_001394510.1:p.Met1711Leu
  • NP_001394511.1:p.Met1711Leu
  • NP_001394512.1:p.Met1710Leu
  • NP_001394514.1:p.Met1710Leu
  • NP_001394516.1:p.Met1710Leu
  • NP_001394519.1:p.Met1709Leu
  • NP_001394520.1:p.Met1709Leu
  • NP_001394522.1:p.Met1689Leu
  • NP_001394523.1:p.Met1689Leu
  • NP_001394525.1:p.Met1689Leu
  • NP_001394526.1:p.Met1689Leu
  • NP_001394527.1:p.Met1689Leu
  • NP_001394531.1:p.Met1689Leu
  • NP_001394532.1:p.Met1689Leu
  • NP_001394534.1:p.Met1689Leu
  • NP_001394539.1:p.Met1688Leu
  • NP_001394540.1:p.Met1688Leu
  • NP_001394541.1:p.Met1688Leu
  • NP_001394542.1:p.Met1688Leu
  • NP_001394543.1:p.Met1688Leu
  • NP_001394544.1:p.Met1688Leu
  • NP_001394545.1:p.Met1688Leu
  • NP_001394546.1:p.Met1688Leu
  • NP_001394547.1:p.Met1688Leu
  • NP_001394548.1:p.Met1688Leu
  • NP_001394549.1:p.Met1688Leu
  • NP_001394550.1:p.Met1688Leu
  • NP_001394551.1:p.Met1688Leu
  • NP_001394552.1:p.Met1688Leu
  • NP_001394553.1:p.Met1688Leu
  • NP_001394554.1:p.Met1688Leu
  • NP_001394555.1:p.Met1688Leu
  • NP_001394556.1:p.Met1687Leu
  • NP_001394557.1:p.Met1687Leu
  • NP_001394558.1:p.Met1687Leu
  • NP_001394559.1:p.Met1687Leu
  • NP_001394560.1:p.Met1687Leu
  • NP_001394561.1:p.Met1687Leu
  • NP_001394562.1:p.Met1687Leu
  • NP_001394563.1:p.Met1687Leu
  • NP_001394564.1:p.Met1687Leu
  • NP_001394565.1:p.Met1687Leu
  • NP_001394566.1:p.Met1687Leu
  • NP_001394567.1:p.Met1687Leu
  • NP_001394568.1:p.Met1687Leu
  • NP_001394569.1:p.Met1687Leu
  • NP_001394570.1:p.Met1687Leu
  • NP_001394571.1:p.Met1687Leu
  • NP_001394573.1:p.Met1686Leu
  • NP_001394574.1:p.Met1686Leu
  • NP_001394575.1:p.Met1685Leu
  • NP_001394576.1:p.Met1684Leu
  • NP_001394577.1:p.Met1670Leu
  • NP_001394578.1:p.Met1669Leu
  • NP_001394581.1:p.Met1689Leu
  • NP_001394582.1:p.Met1663Leu
  • NP_001394583.1:p.Met1663Leu
  • NP_001394584.1:p.Met1663Leu
  • NP_001394585.1:p.Met1662Leu
  • NP_001394586.1:p.Met1662Leu
  • NP_001394587.1:p.Met1662Leu
  • NP_001394588.1:p.Met1661Leu
  • NP_001394589.1:p.Met1661Leu
  • NP_001394590.1:p.Met1661Leu
  • NP_001394591.1:p.Met1661Leu
  • NP_001394592.1:p.Met1661Leu
  • NP_001394593.1:p.Met1648Leu
  • NP_001394594.1:p.Met1648Leu
  • NP_001394595.1:p.Met1648Leu
  • NP_001394596.1:p.Met1648Leu
  • NP_001394597.1:p.Met1648Leu
  • NP_001394598.1:p.Met1648Leu
  • NP_001394599.1:p.Met1647Leu
  • NP_001394600.1:p.Met1647Leu
  • NP_001394601.1:p.Met1647Leu
  • NP_001394602.1:p.Met1647Leu
  • NP_001394603.1:p.Met1647Leu
  • NP_001394604.1:p.Met1647Leu
  • NP_001394605.1:p.Met1647Leu
  • NP_001394606.1:p.Met1647Leu
  • NP_001394607.1:p.Met1647Leu
  • NP_001394608.1:p.Met1647Leu
  • NP_001394609.1:p.Met1647Leu
  • NP_001394610.1:p.Met1646Leu
  • NP_001394611.1:p.Met1646Leu
  • NP_001394612.1:p.Met1646Leu
  • NP_001394613.1:p.Met1689Leu
  • NP_001394614.1:p.Met1646Leu
  • NP_001394615.1:p.Met1646Leu
  • NP_001394616.1:p.Met1646Leu
  • NP_001394617.1:p.Met1646Leu
  • NP_001394618.1:p.Met1646Leu
  • NP_001394619.1:p.Met1645Leu
  • NP_001394620.1:p.Met1645Leu
  • NP_001394621.1:p.Met1642Leu
  • NP_001394623.1:p.Met1642Leu
  • NP_001394624.1:p.Met1642Leu
  • NP_001394625.1:p.Met1642Leu
  • NP_001394626.1:p.Met1642Leu
  • NP_001394627.1:p.Met1642Leu
  • NP_001394653.1:p.Met1642Leu
  • NP_001394654.1:p.Met1642Leu
  • NP_001394655.1:p.Met1642Leu
  • NP_001394656.1:p.Met1642Leu
  • NP_001394657.1:p.Met1642Leu
  • NP_001394658.1:p.Met1642Leu
  • NP_001394659.1:p.Met1642Leu
  • NP_001394660.1:p.Met1642Leu
  • NP_001394661.1:p.Met1641Leu
  • NP_001394662.1:p.Met1641Leu
  • NP_001394663.1:p.Met1641Leu
  • NP_001394664.1:p.Met1641Leu
  • NP_001394665.1:p.Met1641Leu
  • NP_001394666.1:p.Met1641Leu
  • NP_001394667.1:p.Met1641Leu
  • NP_001394668.1:p.Met1641Leu
  • NP_001394669.1:p.Met1641Leu
  • NP_001394670.1:p.Met1641Leu
  • NP_001394671.1:p.Met1641Leu
  • NP_001394672.1:p.Met1641Leu
  • NP_001394673.1:p.Met1641Leu
  • NP_001394674.1:p.Met1641Leu
  • NP_001394675.1:p.Met1641Leu
  • NP_001394676.1:p.Met1641Leu
  • NP_001394677.1:p.Met1641Leu
  • NP_001394678.1:p.Met1641Leu
  • NP_001394679.1:p.Met1641Leu
  • NP_001394680.1:p.Met1641Leu
  • NP_001394681.1:p.Met1641Leu
  • NP_001394767.1:p.Met1640Leu
  • NP_001394768.1:p.Met1640Leu
  • NP_001394770.1:p.Met1640Leu
  • NP_001394771.1:p.Met1640Leu
  • NP_001394772.1:p.Met1640Leu
  • NP_001394773.1:p.Met1640Leu
  • NP_001394774.1:p.Met1640Leu
  • NP_001394775.1:p.Met1640Leu
  • NP_001394776.1:p.Met1640Leu
  • NP_001394777.1:p.Met1640Leu
  • NP_001394778.1:p.Met1640Leu
  • NP_001394779.1:p.Met1640Leu
  • NP_001394780.1:p.Met1640Leu
  • NP_001394781.1:p.Met1640Leu
  • NP_001394782.1:p.Met1640Leu
  • NP_001394783.1:p.Met1689Leu
  • NP_001394787.1:p.Met1688Leu
  • NP_001394788.1:p.Met1688Leu
  • NP_001394789.1:p.Met1688Leu
  • NP_001394790.1:p.Met1687Leu
  • NP_001394791.1:p.Met1622Leu
  • NP_001394792.1:p.Met1647Leu
  • NP_001394803.1:p.Met1620Leu
  • NP_001394804.1:p.Met1620Leu
  • NP_001394808.1:p.Met1619Leu
  • NP_001394810.1:p.Met1619Leu
  • NP_001394811.1:p.Met1619Leu
  • NP_001394813.1:p.Met1619Leu
  • NP_001394814.1:p.Met1619Leu
  • NP_001394815.1:p.Met1619Leu
  • NP_001394816.1:p.Met1619Leu
  • NP_001394818.1:p.Met1619Leu
  • NP_001394823.1:p.Met1618Leu
  • NP_001394824.1:p.Met1618Leu
  • NP_001394825.1:p.Met1618Leu
  • NP_001394826.1:p.Met1618Leu
  • NP_001394827.1:p.Met1618Leu
  • NP_001394828.1:p.Met1618Leu
  • NP_001394829.1:p.Met1618Leu
  • NP_001394831.1:p.Met1618Leu
  • NP_001394833.1:p.Met1618Leu
  • NP_001394835.1:p.Met1618Leu
  • NP_001394836.1:p.Met1618Leu
  • NP_001394837.1:p.Met1618Leu
  • NP_001394838.1:p.Met1618Leu
  • NP_001394839.1:p.Met1618Leu
  • NP_001394844.1:p.Met1617Leu
  • NP_001394845.1:p.Met1617Leu
  • NP_001394846.1:p.Met1617Leu
  • NP_001394847.1:p.Met1617Leu
  • NP_001394848.1:p.Met1648Leu
  • NP_001394849.1:p.Met1601Leu
  • NP_001394850.1:p.Met1601Leu
  • NP_001394851.1:p.Met1601Leu
  • NP_001394852.1:p.Met1601Leu
  • NP_001394853.1:p.Met1601Leu
  • NP_001394854.1:p.Met1601Leu
  • NP_001394855.1:p.Met1601Leu
  • NP_001394856.1:p.Met1600Leu
  • NP_001394857.1:p.Met1600Leu
  • NP_001394858.1:p.Met1600Leu
  • NP_001394859.1:p.Met1600Leu
  • NP_001394860.1:p.Met1600Leu
  • NP_001394861.1:p.Met1600Leu
  • NP_001394862.1:p.Met1600Leu
  • NP_001394863.1:p.Met1599Leu
  • NP_001394864.1:p.Met1599Leu
  • NP_001394865.1:p.Met1599Leu
  • NP_001394866.1:p.Met1648Leu
  • NP_001394867.1:p.Met1648Leu
  • NP_001394868.1:p.Met1647Leu
  • NP_001394869.1:p.Met1647Leu
  • NP_001394870.1:p.Met1646Leu
  • NP_001394871.1:p.Met1642Leu
  • NP_001394872.1:p.Met1641Leu
  • NP_001394873.1:p.Met1641Leu
  • NP_001394874.1:p.Met1641Leu
  • NP_001394875.1:p.Met1578Leu
  • NP_001394876.1:p.Met1578Leu
  • NP_001394877.1:p.Met1578Leu
  • NP_001394878.1:p.Met1578Leu
  • NP_001394879.1:p.Met1577Leu
  • NP_001394880.1:p.Met1577Leu
  • NP_001394881.1:p.Met1577Leu
  • NP_001394882.1:p.Met1577Leu
  • NP_001394883.1:p.Met1577Leu
  • NP_001394884.1:p.Met1577Leu
  • NP_001394885.1:p.Met1576Leu
  • NP_001394886.1:p.Met1576Leu
  • NP_001394887.1:p.Met1576Leu
  • NP_001394888.1:p.Met1562Leu
  • NP_001394889.1:p.Met1561Leu
  • NP_001394891.1:p.Met1561Leu
  • NP_001394892.1:p.Met1560Leu
  • NP_001394893.1:p.Met1535Leu
  • NP_001394894.1:p.Met1520Leu
  • NP_001394895.1:p.Met1393Leu
  • NP_001394896.1:p.Met1392Leu
  • NP_001394897.1:p.Met821Leu
  • NP_001394898.1:p.Met820Leu
  • NP_001394899.1:p.Met608Leu
  • NP_001394900.1:p.Met608Leu
  • NP_001394901.1:p.Met607Leu
  • NP_001394902.1:p.Met586Leu
  • NP_001394903.1:p.Met586Leu
  • NP_001394904.1:p.Met586Leu
  • NP_001394905.1:p.Met586Leu
  • NP_001394906.1:p.Met586Leu
  • NP_001394907.1:p.Met586Leu
  • NP_001394908.1:p.Met585Leu
  • NP_001394909.1:p.Met585Leu
  • NP_001394910.1:p.Met585Leu
  • NP_001394911.1:p.Met585Leu
  • NP_001394912.1:p.Met585Leu
  • NP_001394913.1:p.Met585Leu
  • NP_001394914.1:p.Met585Leu
  • NP_001394915.1:p.Met585Leu
  • NP_001394919.1:p.Met585Leu
  • NP_001394920.1:p.Met585Leu
  • NP_001394921.1:p.Met585Leu
  • NP_001394922.1:p.Met585Leu
  • NP_001395321.1:p.Met584Leu
  • NP_001395325.1:p.Met584Leu
  • NP_001395326.1:p.Met584Leu
  • NP_001395327.1:p.Met584Leu
  • NP_001395328.1:p.Met584Leu
  • NP_001395329.1:p.Met584Leu
  • NP_001395330.1:p.Met584Leu
  • NP_001395331.1:p.Met584Leu
  • NP_001395332.1:p.Met584Leu
  • NP_001395333.1:p.Met584Leu
  • NP_001395335.1:p.Met583Leu
  • NP_001395336.1:p.Met583Leu
  • NP_001395337.1:p.Met583Leu
  • NP_001395338.1:p.Met582Leu
  • NP_001395339.1:p.Met561Leu
  • NP_001395340.1:p.Met560Leu
  • NP_001395341.1:p.Met559Leu
  • NP_001395342.1:p.Met559Leu
  • NP_001395343.1:p.Met559Leu
  • NP_001395344.1:p.Met559Leu
  • NP_001395345.1:p.Met559Leu
  • NP_001395347.1:p.Met547Leu
  • NP_001395348.1:p.Met547Leu
  • NP_001395349.1:p.Met547Leu
  • NP_001395350.1:p.Met546Leu
  • NP_001395351.1:p.Met546Leu
  • NP_001395352.1:p.Met546Leu
  • NP_001395353.1:p.Met546Leu
  • NP_001395354.1:p.Met545Leu
  • NP_001395355.1:p.Met545Leu
  • NP_001395356.1:p.Met545Leu
  • NP_001395357.1:p.Met545Leu
  • NP_001395358.1:p.Met545Leu
  • NP_001395359.1:p.Met545Leu
  • NP_001395360.1:p.Met545Leu
  • NP_001395361.1:p.Met544Leu
  • NP_001395362.1:p.Met544Leu
  • NP_001395363.1:p.Met544Leu
  • NP_001395364.1:p.Met544Leu
  • NP_001395365.1:p.Met544Leu
  • NP_001395366.1:p.Met544Leu
  • NP_001395367.1:p.Met544Leu
  • NP_001395368.1:p.Met544Leu
  • NP_001395369.1:p.Met544Leu
  • NP_001395370.1:p.Met544Leu
  • NP_001395371.1:p.Met544Leu
  • NP_001395372.1:p.Met544Leu
  • NP_001395373.1:p.Met544Leu
  • NP_001395374.1:p.Met543Leu
  • NP_001395375.1:p.Met543Leu
  • NP_001395376.1:p.Met543Leu
  • NP_001395377.1:p.Met543Leu
  • NP_001395379.1:p.Met543Leu
  • NP_001395380.1:p.Met541Leu
  • NP_001395381.1:p.Met539Leu
  • NP_001395382.1:p.Met539Leu
  • NP_001395383.1:p.Met539Leu
  • NP_001395384.1:p.Met539Leu
  • NP_001395385.1:p.Met539Leu
  • NP_001395386.1:p.Met539Leu
  • NP_001395387.1:p.Met538Leu
  • NP_001395388.1:p.Met538Leu
  • NP_001395389.1:p.Met538Leu
  • NP_001395390.1:p.Met538Leu
  • NP_001395391.1:p.Met538Leu
  • NP_001395392.1:p.Met538Leu
  • NP_001395393.1:p.Met538Leu
  • NP_001395394.1:p.Met538Leu
  • NP_001395395.1:p.Met538Leu
  • NP_001395396.1:p.Met538Leu
  • NP_001395397.1:p.Met537Leu
  • NP_001395398.1:p.Met537Leu
  • NP_001395399.1:p.Met537Leu
  • NP_001395401.1:p.Met585Leu
  • NP_001395402.1:p.Met584Leu
  • NP_001395403.1:p.Met519Leu
  • NP_001395404.1:p.Met518Leu
  • NP_001395405.1:p.Met518Leu
  • NP_001395407.1:p.Met516Leu
  • NP_001395408.1:p.Met516Leu
  • NP_001395409.1:p.Met516Leu
  • NP_001395410.1:p.Met515Leu
  • NP_001395411.1:p.Met515Leu
  • NP_001395412.1:p.Met515Leu
  • NP_001395413.1:p.Met515Leu
  • NP_001395414.1:p.Met515Leu
  • NP_001395418.1:p.Met515Leu
  • NP_001395419.1:p.Met515Leu
  • NP_001395420.1:p.Met515Leu
  • NP_001395421.1:p.Met514Leu
  • NP_001395422.1:p.Met514Leu
  • NP_001395423.1:p.Met506Leu
  • NP_001395424.1:p.Met504Leu
  • NP_001395425.1:p.Met498Leu
  • NP_001395426.1:p.Met498Leu
  • NP_001395427.1:p.Met498Leu
  • NP_001395428.1:p.Met498Leu
  • NP_001395429.1:p.Met498Leu
  • NP_001395430.1:p.Met498Leu
  • NP_001395431.1:p.Met497Leu
  • NP_001395432.1:p.Met497Leu
  • NP_001395433.1:p.Met497Leu
  • NP_001395434.1:p.Met496Leu
  • NP_001395435.1:p.Met477Leu
  • NP_001395436.1:p.Met476Leu
  • NP_001395437.1:p.Met473Leu
  • NP_001395438.1:p.Met472Leu
  • NP_001395439.1:p.Met459Leu
  • NP_001395440.1:p.Met458Leu
  • NP_001395441.1:p.Met418Leu
  • NP_001395442.1:p.Met409Leu
  • NP_009225.1:p.Met1689Leu
  • NP_009225.1:p.Met1689Leu
  • NP_009228.2:p.Met1642Leu
  • NP_009229.2:p.Met585Leu
  • NP_009229.2:p.Met585Leu
  • NP_009230.2:p.Met585Leu
  • NP_009231.2:p.Met1710Leu
  • NP_009235.2:p.Met585Leu
  • LRG_292t1:c.5065A>C
  • LRG_292:g.150367A>C
  • LRG_292p1:p.Met1689Leu
  • NC_000017.10:g.41219634T>G
  • NM_007294.3:c.5065A>C
  • NM_007298.3:c.1753A>C
  • NR_027676.2:n.5242A>C
Protein change:
M1392L
Links:
dbSNP: rs1555579619
NCBI 1000 Genomes Browser:
rs1555579619
Molecular consequence:
  • NM_001407571.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5131A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5131A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5128A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5128A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5128A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5125A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5125A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5056A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5056A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5053A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5050A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5008A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5005A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4984A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4984A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4984A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4981A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4981A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4981A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4981A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4981A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4942A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4942A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4942A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4942A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4942A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4942A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4936A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4936A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4936A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4936A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4936A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4936A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4936A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4936A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4933A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4933A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4918A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5062A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4864A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4858A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4858A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4855A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4855A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4855A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4855A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4855A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4855A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4855A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4855A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4852A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4942A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4801A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4801A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4801A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4801A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4801A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4801A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4801A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4798A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4798A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4798A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4798A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4798A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4798A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4798A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4795A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4795A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4795A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4942A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4942A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4939A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4936A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4921A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4732A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4732A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4732A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4732A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4729A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4729A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4729A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4729A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4729A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4729A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4726A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4726A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4726A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4684A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4681A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4681A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4678A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4603A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4558A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4177A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4174A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2461A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2458A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1822A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1822A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1819A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1756A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1756A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1756A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1756A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1756A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1756A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1750A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1750A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1750A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1750A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1750A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1750A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1750A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1750A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1750A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1750A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1747A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1747A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1747A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1744A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1681A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1678A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1675A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1675A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1675A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1675A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1675A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1639A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1639A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1639A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1636A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1636A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1636A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1636A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1633A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1633A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1633A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1633A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1633A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1633A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1633A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1627A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1627A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1627A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1627A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1627A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1621A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1615A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1615A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1615A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1615A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1615A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1615A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1612A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1612A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1612A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1612A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1612A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1612A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1612A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1612A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1612A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1612A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1609A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1609A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1609A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1750A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1555A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1552A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1552A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1546A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1546A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1546A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1543A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1543A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1543A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1543A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1543A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1543A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1543A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1543A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1540A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1540A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1516A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1510A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1492A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1492A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1492A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1492A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1492A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1492A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1489A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1489A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1489A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1486A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1429A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1426A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1417A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1414A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1375A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1372A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1252A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1225A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4924A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5128A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1753A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5242A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000699195Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Mar 28, 2016) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV003927611GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 23, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699195.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: The BRCA1 c.5065A>C variant affects a conserved nucleotide, resulting in an amino acid change from Met to Leu. 2/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). This variant was not found in 121146 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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

From GeneDx, SCV003927611.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published functional studies suggest no damaging effect: variant classified as functional based on a saturation genome editing (SGE) assay measuring cell survival (Findlay et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 5184A>C; This variant is associated with the following publications: (PMID: 25348405, 30209399)

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

Last Updated: Oct 8, 2024