NM_007294.4(BRCA1):c.5044G>A (p.Glu1682Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 29, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001023465.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.5044G>A (p.Glu1682Lys)]

NM_007294.4(BRCA1):c.5044G>A (p.Glu1682Lys)

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.5044G>A (p.Glu1682Lys)
Other names:
5163G>A
HGVS:
  • NC_000017.11:g.43067638C>T
  • NG_005905.2:g.150346G>A
  • NM_001407571.1:c.4831G>A
  • NM_001407581.1:c.5110G>A
  • NM_001407582.1:c.5110G>A
  • NM_001407583.1:c.5107G>A
  • NM_001407585.1:c.5107G>A
  • NM_001407587.1:c.5107G>A
  • NM_001407590.1:c.5104G>A
  • NM_001407591.1:c.5104G>A
  • NM_001407593.1:c.5044G>A
  • NM_001407594.1:c.5044G>A
  • NM_001407596.1:c.5044G>A
  • NM_001407597.1:c.5044G>A
  • NM_001407598.1:c.5044G>A
  • NM_001407602.1:c.5044G>A
  • NM_001407603.1:c.5044G>A
  • NM_001407605.1:c.5044G>A
  • NM_001407610.1:c.5041G>A
  • NM_001407611.1:c.5041G>A
  • NM_001407612.1:c.5041G>A
  • NM_001407613.1:c.5041G>A
  • NM_001407614.1:c.5041G>A
  • NM_001407615.1:c.5041G>A
  • NM_001407616.1:c.5041G>A
  • NM_001407617.1:c.5041G>A
  • NM_001407618.1:c.5041G>A
  • NM_001407619.1:c.5041G>A
  • NM_001407620.1:c.5041G>A
  • NM_001407621.1:c.5041G>A
  • NM_001407622.1:c.5041G>A
  • NM_001407623.1:c.5041G>A
  • NM_001407624.1:c.5041G>A
  • NM_001407625.1:c.5041G>A
  • NM_001407626.1:c.5041G>A
  • NM_001407627.1:c.5038G>A
  • NM_001407628.1:c.5038G>A
  • NM_001407629.1:c.5038G>A
  • NM_001407630.1:c.5038G>A
  • NM_001407631.1:c.5038G>A
  • NM_001407632.1:c.5038G>A
  • NM_001407633.1:c.5038G>A
  • NM_001407634.1:c.5038G>A
  • NM_001407635.1:c.5038G>A
  • NM_001407636.1:c.5038G>A
  • NM_001407637.1:c.5038G>A
  • NM_001407638.1:c.5038G>A
  • NM_001407639.1:c.5038G>A
  • NM_001407640.1:c.5038G>A
  • NM_001407641.1:c.5038G>A
  • NM_001407642.1:c.5038G>A
  • NM_001407644.1:c.5035G>A
  • NM_001407645.1:c.5035G>A
  • NM_001407646.1:c.5032G>A
  • NM_001407647.1:c.5029G>A
  • NM_001407648.1:c.4987G>A
  • NM_001407649.1:c.4984G>A
  • NM_001407652.1:c.5044G>A
  • NM_001407653.1:c.4966G>A
  • NM_001407654.1:c.4966G>A
  • NM_001407655.1:c.4966G>A
  • NM_001407656.1:c.4963G>A
  • NM_001407657.1:c.4963G>A
  • NM_001407658.1:c.4963G>A
  • NM_001407659.1:c.4960G>A
  • NM_001407660.1:c.4960G>A
  • NM_001407661.1:c.4960G>A
  • NM_001407662.1:c.4960G>A
  • NM_001407663.1:c.4960G>A
  • NM_001407664.1:c.4921G>A
  • NM_001407665.1:c.4921G>A
  • NM_001407666.1:c.4921G>A
  • NM_001407667.1:c.4921G>A
  • NM_001407668.1:c.4921G>A
  • NM_001407669.1:c.4921G>A
  • NM_001407670.1:c.4918G>A
  • NM_001407671.1:c.4918G>A
  • NM_001407672.1:c.4918G>A
  • NM_001407673.1:c.4918G>A
  • NM_001407674.1:c.4918G>A
  • NM_001407675.1:c.4918G>A
  • NM_001407676.1:c.4918G>A
  • NM_001407677.1:c.4918G>A
  • NM_001407678.1:c.4918G>A
  • NM_001407679.1:c.4918G>A
  • NM_001407680.1:c.4918G>A
  • NM_001407681.1:c.4915G>A
  • NM_001407682.1:c.4915G>A
  • NM_001407683.1:c.4915G>A
  • NM_001407684.1:c.5044G>A
  • NM_001407685.1:c.4915G>A
  • NM_001407686.1:c.4915G>A
  • NM_001407687.1:c.4915G>A
  • NM_001407688.1:c.4915G>A
  • NM_001407689.1:c.4915G>A
  • NM_001407690.1:c.4912G>A
  • NM_001407691.1:c.4912G>A
  • NM_001407692.1:c.4903G>A
  • NM_001407694.1:c.4903G>A
  • NM_001407695.1:c.4903G>A
  • NM_001407696.1:c.4903G>A
  • NM_001407697.1:c.4903G>A
  • NM_001407698.1:c.4903G>A
  • NM_001407724.1:c.4903G>A
  • NM_001407725.1:c.4903G>A
  • NM_001407726.1:c.4903G>A
  • NM_001407727.1:c.4903G>A
  • NM_001407728.1:c.4903G>A
  • NM_001407729.1:c.4903G>A
  • NM_001407730.1:c.4903G>A
  • NM_001407731.1:c.4903G>A
  • NM_001407732.1:c.4900G>A
  • NM_001407733.1:c.4900G>A
  • NM_001407734.1:c.4900G>A
  • NM_001407735.1:c.4900G>A
  • NM_001407736.1:c.4900G>A
  • NM_001407737.1:c.4900G>A
  • NM_001407738.1:c.4900G>A
  • NM_001407739.1:c.4900G>A
  • NM_001407740.1:c.4900G>A
  • NM_001407741.1:c.4900G>A
  • NM_001407742.1:c.4900G>A
  • NM_001407743.1:c.4900G>A
  • NM_001407744.1:c.4900G>A
  • NM_001407745.1:c.4900G>A
  • NM_001407746.1:c.4900G>A
  • NM_001407747.1:c.4900G>A
  • NM_001407748.1:c.4900G>A
  • NM_001407749.1:c.4900G>A
  • NM_001407750.1:c.4900G>A
  • NM_001407751.1:c.4900G>A
  • NM_001407752.1:c.4900G>A
  • NM_001407838.1:c.4897G>A
  • NM_001407839.1:c.4897G>A
  • NM_001407841.1:c.4897G>A
  • NM_001407842.1:c.4897G>A
  • NM_001407843.1:c.4897G>A
  • NM_001407844.1:c.4897G>A
  • NM_001407845.1:c.4897G>A
  • NM_001407846.1:c.4897G>A
  • NM_001407847.1:c.4897G>A
  • NM_001407848.1:c.4897G>A
  • NM_001407849.1:c.4897G>A
  • NM_001407850.1:c.4897G>A
  • NM_001407851.1:c.4897G>A
  • NM_001407852.1:c.4897G>A
  • NM_001407853.1:c.4897G>A
  • NM_001407854.1:c.5044G>A
  • NM_001407858.1:c.5041G>A
  • NM_001407859.1:c.5041G>A
  • NM_001407860.1:c.5041G>A
  • NM_001407861.1:c.5038G>A
  • NM_001407862.1:c.4843G>A
  • NM_001407863.1:c.4918G>A
  • NM_001407874.1:c.4837G>A
  • NM_001407875.1:c.4837G>A
  • NM_001407879.1:c.4834G>A
  • NM_001407881.1:c.4834G>A
  • NM_001407882.1:c.4834G>A
  • NM_001407884.1:c.4834G>A
  • NM_001407885.1:c.4834G>A
  • NM_001407886.1:c.4834G>A
  • NM_001407887.1:c.4834G>A
  • NM_001407889.1:c.4834G>A
  • NM_001407894.1:c.4831G>A
  • NM_001407895.1:c.4831G>A
  • NM_001407896.1:c.4831G>A
  • NM_001407897.1:c.4831G>A
  • NM_001407898.1:c.4831G>A
  • NM_001407899.1:c.4831G>A
  • NM_001407900.1:c.4831G>A
  • NM_001407902.1:c.4831G>A
  • NM_001407904.1:c.4831G>A
  • NM_001407906.1:c.4831G>A
  • NM_001407907.1:c.4831G>A
  • NM_001407908.1:c.4831G>A
  • NM_001407909.1:c.4831G>A
  • NM_001407910.1:c.4831G>A
  • NM_001407915.1:c.4828G>A
  • NM_001407916.1:c.4828G>A
  • NM_001407917.1:c.4828G>A
  • NM_001407918.1:c.4828G>A
  • NM_001407919.1:c.4921G>A
  • NM_001407920.1:c.4780G>A
  • NM_001407921.1:c.4780G>A
  • NM_001407922.1:c.4780G>A
  • NM_001407923.1:c.4780G>A
  • NM_001407924.1:c.4780G>A
  • NM_001407925.1:c.4780G>A
  • NM_001407926.1:c.4780G>A
  • NM_001407927.1:c.4777G>A
  • NM_001407928.1:c.4777G>A
  • NM_001407929.1:c.4777G>A
  • NM_001407930.1:c.4777G>A
  • NM_001407931.1:c.4777G>A
  • NM_001407932.1:c.4777G>A
  • NM_001407933.1:c.4777G>A
  • NM_001407934.1:c.4774G>A
  • NM_001407935.1:c.4774G>A
  • NM_001407936.1:c.4774G>A
  • NM_001407937.1:c.4921G>A
  • NM_001407938.1:c.4921G>A
  • NM_001407939.1:c.4918G>A
  • NM_001407940.1:c.4918G>A
  • NM_001407941.1:c.4915G>A
  • NM_001407942.1:c.4903G>A
  • NM_001407943.1:c.4900G>A
  • NM_001407944.1:c.4900G>A
  • NM_001407945.1:c.4900G>A
  • NM_001407946.1:c.4711G>A
  • NM_001407947.1:c.4711G>A
  • NM_001407948.1:c.4711G>A
  • NM_001407949.1:c.4711G>A
  • NM_001407950.1:c.4708G>A
  • NM_001407951.1:c.4708G>A
  • NM_001407952.1:c.4708G>A
  • NM_001407953.1:c.4708G>A
  • NM_001407954.1:c.4708G>A
  • NM_001407955.1:c.4708G>A
  • NM_001407956.1:c.4705G>A
  • NM_001407957.1:c.4705G>A
  • NM_001407958.1:c.4705G>A
  • NM_001407959.1:c.4663G>A
  • NM_001407960.1:c.4660G>A
  • NM_001407962.1:c.4660G>A
  • NM_001407963.1:c.4657G>A
  • NM_001407964.1:c.4582G>A
  • NM_001407965.1:c.4537G>A
  • NM_001407966.1:c.4156G>A
  • NM_001407967.1:c.4153G>A
  • NM_001407968.1:c.2440G>A
  • NM_001407969.1:c.2437G>A
  • NM_001407970.1:c.1801G>A
  • NM_001407971.1:c.1801G>A
  • NM_001407972.1:c.1798G>A
  • NM_001407973.1:c.1735G>A
  • NM_001407974.1:c.1735G>A
  • NM_001407975.1:c.1735G>A
  • NM_001407976.1:c.1735G>A
  • NM_001407977.1:c.1735G>A
  • NM_001407978.1:c.1735G>A
  • NM_001407979.1:c.1732G>A
  • NM_001407980.1:c.1732G>A
  • NM_001407981.1:c.1732G>A
  • NM_001407982.1:c.1732G>A
  • NM_001407983.1:c.1732G>A
  • NM_001407984.1:c.1732G>A
  • NM_001407985.1:c.1732G>A
  • NM_001407986.1:c.1732G>A
  • NM_001407990.1:c.1732G>A
  • NM_001407991.1:c.1732G>A
  • NM_001407992.1:c.1732G>A
  • NM_001407993.1:c.1732G>A
  • NM_001408392.1:c.1729G>A
  • NM_001408396.1:c.1729G>A
  • NM_001408397.1:c.1729G>A
  • NM_001408398.1:c.1729G>A
  • NM_001408399.1:c.1729G>A
  • NM_001408400.1:c.1729G>A
  • NM_001408401.1:c.1729G>A
  • NM_001408402.1:c.1729G>A
  • NM_001408403.1:c.1729G>A
  • NM_001408404.1:c.1729G>A
  • NM_001408406.1:c.1726G>A
  • NM_001408407.1:c.1726G>A
  • NM_001408408.1:c.1726G>A
  • NM_001408409.1:c.1723G>A
  • NM_001408410.1:c.1660G>A
  • NM_001408411.1:c.1657G>A
  • NM_001408412.1:c.1654G>A
  • NM_001408413.1:c.1654G>A
  • NM_001408414.1:c.1654G>A
  • NM_001408415.1:c.1654G>A
  • NM_001408416.1:c.1654G>A
  • NM_001408418.1:c.1618G>A
  • NM_001408419.1:c.1618G>A
  • NM_001408420.1:c.1618G>A
  • NM_001408421.1:c.1615G>A
  • NM_001408422.1:c.1615G>A
  • NM_001408423.1:c.1615G>A
  • NM_001408424.1:c.1615G>A
  • NM_001408425.1:c.1612G>A
  • NM_001408426.1:c.1612G>A
  • NM_001408427.1:c.1612G>A
  • NM_001408428.1:c.1612G>A
  • NM_001408429.1:c.1612G>A
  • NM_001408430.1:c.1612G>A
  • NM_001408431.1:c.1612G>A
  • NM_001408432.1:c.1609G>A
  • NM_001408433.1:c.1609G>A
  • NM_001408434.1:c.1609G>A
  • NM_001408435.1:c.1609G>A
  • NM_001408436.1:c.1609G>A
  • NM_001408437.1:c.1609G>A
  • NM_001408438.1:c.1609G>A
  • NM_001408439.1:c.1609G>A
  • NM_001408440.1:c.1609G>A
  • NM_001408441.1:c.1609G>A
  • NM_001408442.1:c.1609G>A
  • NM_001408443.1:c.1609G>A
  • NM_001408444.1:c.1609G>A
  • NM_001408445.1:c.1606G>A
  • NM_001408446.1:c.1606G>A
  • NM_001408447.1:c.1606G>A
  • NM_001408448.1:c.1606G>A
  • NM_001408450.1:c.1606G>A
  • NM_001408451.1:c.1600G>A
  • NM_001408452.1:c.1594G>A
  • NM_001408453.1:c.1594G>A
  • NM_001408454.1:c.1594G>A
  • NM_001408455.1:c.1594G>A
  • NM_001408456.1:c.1594G>A
  • NM_001408457.1:c.1594G>A
  • NM_001408458.1:c.1591G>A
  • NM_001408459.1:c.1591G>A
  • NM_001408460.1:c.1591G>A
  • NM_001408461.1:c.1591G>A
  • NM_001408462.1:c.1591G>A
  • NM_001408463.1:c.1591G>A
  • NM_001408464.1:c.1591G>A
  • NM_001408465.1:c.1591G>A
  • NM_001408466.1:c.1591G>A
  • NM_001408467.1:c.1591G>A
  • NM_001408468.1:c.1588G>A
  • NM_001408469.1:c.1588G>A
  • NM_001408470.1:c.1588G>A
  • NM_001408472.1:c.1732G>A
  • NM_001408473.1:c.1729G>A
  • NM_001408474.1:c.1534G>A
  • NM_001408475.1:c.1531G>A
  • NM_001408476.1:c.1531G>A
  • NM_001408478.1:c.1525G>A
  • NM_001408479.1:c.1525G>A
  • NM_001408480.1:c.1525G>A
  • NM_001408481.1:c.1522G>A
  • NM_001408482.1:c.1522G>A
  • NM_001408483.1:c.1522G>A
  • NM_001408484.1:c.1522G>A
  • NM_001408485.1:c.1522G>A
  • NM_001408489.1:c.1522G>A
  • NM_001408490.1:c.1522G>A
  • NM_001408491.1:c.1522G>A
  • NM_001408492.1:c.1519G>A
  • NM_001408493.1:c.1519G>A
  • NM_001408494.1:c.1495G>A
  • NM_001408495.1:c.1489G>A
  • NM_001408496.1:c.1471G>A
  • NM_001408497.1:c.1471G>A
  • NM_001408498.1:c.1471G>A
  • NM_001408499.1:c.1471G>A
  • NM_001408500.1:c.1471G>A
  • NM_001408501.1:c.1471G>A
  • NM_001408502.1:c.1468G>A
  • NM_001408503.1:c.1468G>A
  • NM_001408504.1:c.1468G>A
  • NM_001408505.1:c.1465G>A
  • NM_001408506.1:c.1408G>A
  • NM_001408507.1:c.1405G>A
  • NM_001408508.1:c.1396G>A
  • NM_001408509.1:c.1393G>A
  • NM_001408510.1:c.1354G>A
  • NM_001408511.1:c.1351G>A
  • NM_001408512.1:c.1231G>A
  • NM_001408513.1:c.1204G>A
  • NM_007294.4:c.5044G>AMANE SELECT
  • NM_007297.4:c.4903G>A
  • NM_007298.4:c.1732G>A
  • NM_007299.4:c.1732G>A
  • NM_007300.4:c.5107G>A
  • NM_007304.2:c.1732G>A
  • NP_001394500.1:p.Glu1611Lys
  • NP_001394510.1:p.Glu1704Lys
  • NP_001394511.1:p.Glu1704Lys
  • NP_001394512.1:p.Glu1703Lys
  • NP_001394514.1:p.Glu1703Lys
  • NP_001394516.1:p.Glu1703Lys
  • NP_001394519.1:p.Glu1702Lys
  • NP_001394520.1:p.Glu1702Lys
  • NP_001394522.1:p.Glu1682Lys
  • NP_001394523.1:p.Glu1682Lys
  • NP_001394525.1:p.Glu1682Lys
  • NP_001394526.1:p.Glu1682Lys
  • NP_001394527.1:p.Glu1682Lys
  • NP_001394531.1:p.Glu1682Lys
  • NP_001394532.1:p.Glu1682Lys
  • NP_001394534.1:p.Glu1682Lys
  • NP_001394539.1:p.Glu1681Lys
  • NP_001394540.1:p.Glu1681Lys
  • NP_001394541.1:p.Glu1681Lys
  • NP_001394542.1:p.Glu1681Lys
  • NP_001394543.1:p.Glu1681Lys
  • NP_001394544.1:p.Glu1681Lys
  • NP_001394545.1:p.Glu1681Lys
  • NP_001394546.1:p.Glu1681Lys
  • NP_001394547.1:p.Glu1681Lys
  • NP_001394548.1:p.Glu1681Lys
  • NP_001394549.1:p.Glu1681Lys
  • NP_001394550.1:p.Glu1681Lys
  • NP_001394551.1:p.Glu1681Lys
  • NP_001394552.1:p.Glu1681Lys
  • NP_001394553.1:p.Glu1681Lys
  • NP_001394554.1:p.Glu1681Lys
  • NP_001394555.1:p.Glu1681Lys
  • NP_001394556.1:p.Glu1680Lys
  • NP_001394557.1:p.Glu1680Lys
  • NP_001394558.1:p.Glu1680Lys
  • NP_001394559.1:p.Glu1680Lys
  • NP_001394560.1:p.Glu1680Lys
  • NP_001394561.1:p.Glu1680Lys
  • NP_001394562.1:p.Glu1680Lys
  • NP_001394563.1:p.Glu1680Lys
  • NP_001394564.1:p.Glu1680Lys
  • NP_001394565.1:p.Glu1680Lys
  • NP_001394566.1:p.Glu1680Lys
  • NP_001394567.1:p.Glu1680Lys
  • NP_001394568.1:p.Glu1680Lys
  • NP_001394569.1:p.Glu1680Lys
  • NP_001394570.1:p.Glu1680Lys
  • NP_001394571.1:p.Glu1680Lys
  • NP_001394573.1:p.Glu1679Lys
  • NP_001394574.1:p.Glu1679Lys
  • NP_001394575.1:p.Glu1678Lys
  • NP_001394576.1:p.Glu1677Lys
  • NP_001394577.1:p.Glu1663Lys
  • NP_001394578.1:p.Glu1662Lys
  • NP_001394581.1:p.Glu1682Lys
  • NP_001394582.1:p.Glu1656Lys
  • NP_001394583.1:p.Glu1656Lys
  • NP_001394584.1:p.Glu1656Lys
  • NP_001394585.1:p.Glu1655Lys
  • NP_001394586.1:p.Glu1655Lys
  • NP_001394587.1:p.Glu1655Lys
  • NP_001394588.1:p.Glu1654Lys
  • NP_001394589.1:p.Glu1654Lys
  • NP_001394590.1:p.Glu1654Lys
  • NP_001394591.1:p.Glu1654Lys
  • NP_001394592.1:p.Glu1654Lys
  • NP_001394593.1:p.Glu1641Lys
  • NP_001394594.1:p.Glu1641Lys
  • NP_001394595.1:p.Glu1641Lys
  • NP_001394596.1:p.Glu1641Lys
  • NP_001394597.1:p.Glu1641Lys
  • NP_001394598.1:p.Glu1641Lys
  • NP_001394599.1:p.Glu1640Lys
  • NP_001394600.1:p.Glu1640Lys
  • NP_001394601.1:p.Glu1640Lys
  • NP_001394602.1:p.Glu1640Lys
  • NP_001394603.1:p.Glu1640Lys
  • NP_001394604.1:p.Glu1640Lys
  • NP_001394605.1:p.Glu1640Lys
  • NP_001394606.1:p.Glu1640Lys
  • NP_001394607.1:p.Glu1640Lys
  • NP_001394608.1:p.Glu1640Lys
  • NP_001394609.1:p.Glu1640Lys
  • NP_001394610.1:p.Glu1639Lys
  • NP_001394611.1:p.Glu1639Lys
  • NP_001394612.1:p.Glu1639Lys
  • NP_001394613.1:p.Glu1682Lys
  • NP_001394614.1:p.Glu1639Lys
  • NP_001394615.1:p.Glu1639Lys
  • NP_001394616.1:p.Glu1639Lys
  • NP_001394617.1:p.Glu1639Lys
  • NP_001394618.1:p.Glu1639Lys
  • NP_001394619.1:p.Glu1638Lys
  • NP_001394620.1:p.Glu1638Lys
  • NP_001394621.1:p.Glu1635Lys
  • NP_001394623.1:p.Glu1635Lys
  • NP_001394624.1:p.Glu1635Lys
  • NP_001394625.1:p.Glu1635Lys
  • NP_001394626.1:p.Glu1635Lys
  • NP_001394627.1:p.Glu1635Lys
  • NP_001394653.1:p.Glu1635Lys
  • NP_001394654.1:p.Glu1635Lys
  • NP_001394655.1:p.Glu1635Lys
  • NP_001394656.1:p.Glu1635Lys
  • NP_001394657.1:p.Glu1635Lys
  • NP_001394658.1:p.Glu1635Lys
  • NP_001394659.1:p.Glu1635Lys
  • NP_001394660.1:p.Glu1635Lys
  • NP_001394661.1:p.Glu1634Lys
  • NP_001394662.1:p.Glu1634Lys
  • NP_001394663.1:p.Glu1634Lys
  • NP_001394664.1:p.Glu1634Lys
  • NP_001394665.1:p.Glu1634Lys
  • NP_001394666.1:p.Glu1634Lys
  • NP_001394667.1:p.Glu1634Lys
  • NP_001394668.1:p.Glu1634Lys
  • NP_001394669.1:p.Glu1634Lys
  • NP_001394670.1:p.Glu1634Lys
  • NP_001394671.1:p.Glu1634Lys
  • NP_001394672.1:p.Glu1634Lys
  • NP_001394673.1:p.Glu1634Lys
  • NP_001394674.1:p.Glu1634Lys
  • NP_001394675.1:p.Glu1634Lys
  • NP_001394676.1:p.Glu1634Lys
  • NP_001394677.1:p.Glu1634Lys
  • NP_001394678.1:p.Glu1634Lys
  • NP_001394679.1:p.Glu1634Lys
  • NP_001394680.1:p.Glu1634Lys
  • NP_001394681.1:p.Glu1634Lys
  • NP_001394767.1:p.Glu1633Lys
  • NP_001394768.1:p.Glu1633Lys
  • NP_001394770.1:p.Glu1633Lys
  • NP_001394771.1:p.Glu1633Lys
  • NP_001394772.1:p.Glu1633Lys
  • NP_001394773.1:p.Glu1633Lys
  • NP_001394774.1:p.Glu1633Lys
  • NP_001394775.1:p.Glu1633Lys
  • NP_001394776.1:p.Glu1633Lys
  • NP_001394777.1:p.Glu1633Lys
  • NP_001394778.1:p.Glu1633Lys
  • NP_001394779.1:p.Glu1633Lys
  • NP_001394780.1:p.Glu1633Lys
  • NP_001394781.1:p.Glu1633Lys
  • NP_001394782.1:p.Glu1633Lys
  • NP_001394783.1:p.Glu1682Lys
  • NP_001394787.1:p.Glu1681Lys
  • NP_001394788.1:p.Glu1681Lys
  • NP_001394789.1:p.Glu1681Lys
  • NP_001394790.1:p.Glu1680Lys
  • NP_001394791.1:p.Glu1615Lys
  • NP_001394792.1:p.Glu1640Lys
  • NP_001394803.1:p.Glu1613Lys
  • NP_001394804.1:p.Glu1613Lys
  • NP_001394808.1:p.Glu1612Lys
  • NP_001394810.1:p.Glu1612Lys
  • NP_001394811.1:p.Glu1612Lys
  • NP_001394813.1:p.Glu1612Lys
  • NP_001394814.1:p.Glu1612Lys
  • NP_001394815.1:p.Glu1612Lys
  • NP_001394816.1:p.Glu1612Lys
  • NP_001394818.1:p.Glu1612Lys
  • NP_001394823.1:p.Glu1611Lys
  • NP_001394824.1:p.Glu1611Lys
  • NP_001394825.1:p.Glu1611Lys
  • NP_001394826.1:p.Glu1611Lys
  • NP_001394827.1:p.Glu1611Lys
  • NP_001394828.1:p.Glu1611Lys
  • NP_001394829.1:p.Glu1611Lys
  • NP_001394831.1:p.Glu1611Lys
  • NP_001394833.1:p.Glu1611Lys
  • NP_001394835.1:p.Glu1611Lys
  • NP_001394836.1:p.Glu1611Lys
  • NP_001394837.1:p.Glu1611Lys
  • NP_001394838.1:p.Glu1611Lys
  • NP_001394839.1:p.Glu1611Lys
  • NP_001394844.1:p.Glu1610Lys
  • NP_001394845.1:p.Glu1610Lys
  • NP_001394846.1:p.Glu1610Lys
  • NP_001394847.1:p.Glu1610Lys
  • NP_001394848.1:p.Glu1641Lys
  • NP_001394849.1:p.Glu1594Lys
  • NP_001394850.1:p.Glu1594Lys
  • NP_001394851.1:p.Glu1594Lys
  • NP_001394852.1:p.Glu1594Lys
  • NP_001394853.1:p.Glu1594Lys
  • NP_001394854.1:p.Glu1594Lys
  • NP_001394855.1:p.Glu1594Lys
  • NP_001394856.1:p.Glu1593Lys
  • NP_001394857.1:p.Glu1593Lys
  • NP_001394858.1:p.Glu1593Lys
  • NP_001394859.1:p.Glu1593Lys
  • NP_001394860.1:p.Glu1593Lys
  • NP_001394861.1:p.Glu1593Lys
  • NP_001394862.1:p.Glu1593Lys
  • NP_001394863.1:p.Glu1592Lys
  • NP_001394864.1:p.Glu1592Lys
  • NP_001394865.1:p.Glu1592Lys
  • NP_001394866.1:p.Glu1641Lys
  • NP_001394867.1:p.Glu1641Lys
  • NP_001394868.1:p.Glu1640Lys
  • NP_001394869.1:p.Glu1640Lys
  • NP_001394870.1:p.Glu1639Lys
  • NP_001394871.1:p.Glu1635Lys
  • NP_001394872.1:p.Glu1634Lys
  • NP_001394873.1:p.Glu1634Lys
  • NP_001394874.1:p.Glu1634Lys
  • NP_001394875.1:p.Glu1571Lys
  • NP_001394876.1:p.Glu1571Lys
  • NP_001394877.1:p.Glu1571Lys
  • NP_001394878.1:p.Glu1571Lys
  • NP_001394879.1:p.Glu1570Lys
  • NP_001394880.1:p.Glu1570Lys
  • NP_001394881.1:p.Glu1570Lys
  • NP_001394882.1:p.Glu1570Lys
  • NP_001394883.1:p.Glu1570Lys
  • NP_001394884.1:p.Glu1570Lys
  • NP_001394885.1:p.Glu1569Lys
  • NP_001394886.1:p.Glu1569Lys
  • NP_001394887.1:p.Glu1569Lys
  • NP_001394888.1:p.Glu1555Lys
  • NP_001394889.1:p.Glu1554Lys
  • NP_001394891.1:p.Glu1554Lys
  • NP_001394892.1:p.Glu1553Lys
  • NP_001394893.1:p.Glu1528Lys
  • NP_001394894.1:p.Glu1513Lys
  • NP_001394895.1:p.Glu1386Lys
  • NP_001394896.1:p.Glu1385Lys
  • NP_001394897.1:p.Glu814Lys
  • NP_001394898.1:p.Glu813Lys
  • NP_001394899.1:p.Glu601Lys
  • NP_001394900.1:p.Glu601Lys
  • NP_001394901.1:p.Glu600Lys
  • NP_001394902.1:p.Glu579Lys
  • NP_001394903.1:p.Glu579Lys
  • NP_001394904.1:p.Glu579Lys
  • NP_001394905.1:p.Glu579Lys
  • NP_001394906.1:p.Glu579Lys
  • NP_001394907.1:p.Glu579Lys
  • NP_001394908.1:p.Glu578Lys
  • NP_001394909.1:p.Glu578Lys
  • NP_001394910.1:p.Glu578Lys
  • NP_001394911.1:p.Glu578Lys
  • NP_001394912.1:p.Glu578Lys
  • NP_001394913.1:p.Glu578Lys
  • NP_001394914.1:p.Glu578Lys
  • NP_001394915.1:p.Glu578Lys
  • NP_001394919.1:p.Glu578Lys
  • NP_001394920.1:p.Glu578Lys
  • NP_001394921.1:p.Glu578Lys
  • NP_001394922.1:p.Glu578Lys
  • NP_001395321.1:p.Glu577Lys
  • NP_001395325.1:p.Glu577Lys
  • NP_001395326.1:p.Glu577Lys
  • NP_001395327.1:p.Glu577Lys
  • NP_001395328.1:p.Glu577Lys
  • NP_001395329.1:p.Glu577Lys
  • NP_001395330.1:p.Glu577Lys
  • NP_001395331.1:p.Glu577Lys
  • NP_001395332.1:p.Glu577Lys
  • NP_001395333.1:p.Glu577Lys
  • NP_001395335.1:p.Glu576Lys
  • NP_001395336.1:p.Glu576Lys
  • NP_001395337.1:p.Glu576Lys
  • NP_001395338.1:p.Glu575Lys
  • NP_001395339.1:p.Glu554Lys
  • NP_001395340.1:p.Glu553Lys
  • NP_001395341.1:p.Glu552Lys
  • NP_001395342.1:p.Glu552Lys
  • NP_001395343.1:p.Glu552Lys
  • NP_001395344.1:p.Glu552Lys
  • NP_001395345.1:p.Glu552Lys
  • NP_001395347.1:p.Glu540Lys
  • NP_001395348.1:p.Glu540Lys
  • NP_001395349.1:p.Glu540Lys
  • NP_001395350.1:p.Glu539Lys
  • NP_001395351.1:p.Glu539Lys
  • NP_001395352.1:p.Glu539Lys
  • NP_001395353.1:p.Glu539Lys
  • NP_001395354.1:p.Glu538Lys
  • NP_001395355.1:p.Glu538Lys
  • NP_001395356.1:p.Glu538Lys
  • NP_001395357.1:p.Glu538Lys
  • NP_001395358.1:p.Glu538Lys
  • NP_001395359.1:p.Glu538Lys
  • NP_001395360.1:p.Glu538Lys
  • NP_001395361.1:p.Glu537Lys
  • NP_001395362.1:p.Glu537Lys
  • NP_001395363.1:p.Glu537Lys
  • NP_001395364.1:p.Glu537Lys
  • NP_001395365.1:p.Glu537Lys
  • NP_001395366.1:p.Glu537Lys
  • NP_001395367.1:p.Glu537Lys
  • NP_001395368.1:p.Glu537Lys
  • NP_001395369.1:p.Glu537Lys
  • NP_001395370.1:p.Glu537Lys
  • NP_001395371.1:p.Glu537Lys
  • NP_001395372.1:p.Glu537Lys
  • NP_001395373.1:p.Glu537Lys
  • NP_001395374.1:p.Glu536Lys
  • NP_001395375.1:p.Glu536Lys
  • NP_001395376.1:p.Glu536Lys
  • NP_001395377.1:p.Glu536Lys
  • NP_001395379.1:p.Glu536Lys
  • NP_001395380.1:p.Glu534Lys
  • NP_001395381.1:p.Glu532Lys
  • NP_001395382.1:p.Glu532Lys
  • NP_001395383.1:p.Glu532Lys
  • NP_001395384.1:p.Glu532Lys
  • NP_001395385.1:p.Glu532Lys
  • NP_001395386.1:p.Glu532Lys
  • NP_001395387.1:p.Glu531Lys
  • NP_001395388.1:p.Glu531Lys
  • NP_001395389.1:p.Glu531Lys
  • NP_001395390.1:p.Glu531Lys
  • NP_001395391.1:p.Glu531Lys
  • NP_001395392.1:p.Glu531Lys
  • NP_001395393.1:p.Glu531Lys
  • NP_001395394.1:p.Glu531Lys
  • NP_001395395.1:p.Glu531Lys
  • NP_001395396.1:p.Glu531Lys
  • NP_001395397.1:p.Glu530Lys
  • NP_001395398.1:p.Glu530Lys
  • NP_001395399.1:p.Glu530Lys
  • NP_001395401.1:p.Glu578Lys
  • NP_001395402.1:p.Glu577Lys
  • NP_001395403.1:p.Glu512Lys
  • NP_001395404.1:p.Glu511Lys
  • NP_001395405.1:p.Glu511Lys
  • NP_001395407.1:p.Glu509Lys
  • NP_001395408.1:p.Glu509Lys
  • NP_001395409.1:p.Glu509Lys
  • NP_001395410.1:p.Glu508Lys
  • NP_001395411.1:p.Glu508Lys
  • NP_001395412.1:p.Glu508Lys
  • NP_001395413.1:p.Glu508Lys
  • NP_001395414.1:p.Glu508Lys
  • NP_001395418.1:p.Glu508Lys
  • NP_001395419.1:p.Glu508Lys
  • NP_001395420.1:p.Glu508Lys
  • NP_001395421.1:p.Glu507Lys
  • NP_001395422.1:p.Glu507Lys
  • NP_001395423.1:p.Glu499Lys
  • NP_001395424.1:p.Glu497Lys
  • NP_001395425.1:p.Glu491Lys
  • NP_001395426.1:p.Glu491Lys
  • NP_001395427.1:p.Glu491Lys
  • NP_001395428.1:p.Glu491Lys
  • NP_001395429.1:p.Glu491Lys
  • NP_001395430.1:p.Glu491Lys
  • NP_001395431.1:p.Glu490Lys
  • NP_001395432.1:p.Glu490Lys
  • NP_001395433.1:p.Glu490Lys
  • NP_001395434.1:p.Glu489Lys
  • NP_001395435.1:p.Glu470Lys
  • NP_001395436.1:p.Glu469Lys
  • NP_001395437.1:p.Glu466Lys
  • NP_001395438.1:p.Glu465Lys
  • NP_001395439.1:p.Glu452Lys
  • NP_001395440.1:p.Glu451Lys
  • NP_001395441.1:p.Glu411Lys
  • NP_001395442.1:p.Glu402Lys
  • NP_009225.1:p.Glu1682Lys
  • NP_009225.1:p.Glu1682Lys
  • NP_009228.2:p.Glu1635Lys
  • NP_009229.2:p.Glu578Lys
  • NP_009229.2:p.Glu578Lys
  • NP_009230.2:p.Glu578Lys
  • NP_009231.2:p.Glu1703Lys
  • NP_009235.2:p.Glu578Lys
  • LRG_292t1:c.5044G>A
  • LRG_292:g.150346G>A
  • LRG_292p1:p.Glu1682Lys
  • NC_000017.10:g.41219655C>T
  • NM_007294.3:c.5044G>A
  • NM_007298.3:c.1732G>A
  • NR_027676.2:n.5221G>A
  • U14680.1:n.5163G>A
Protein change:
E1385K
Links:
BRCA1-HCI: BRCA1_00092; dbSNP: rs80356958
NCBI 1000 Genomes Browser:
rs80356958
Molecular consequence:
  • NM_001407571.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5110G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5110G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5104G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5104G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5035G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5035G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5032G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5029G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4987G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4984G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4966G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4963G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4960G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4960G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4960G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4960G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4960G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4915G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4915G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4915G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4915G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4915G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4915G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4915G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4915G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4912G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4912G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4897G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5041G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5038G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4843G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4837G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4837G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4834G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4831G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4828G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4828G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4828G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4828G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4780G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4777G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4774G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4774G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4774G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4921G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4918G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4915G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4900G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4711G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4708G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4708G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4708G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4708G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4708G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4708G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4705G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4705G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4705G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4663G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4582G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4156G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4153G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2440G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2437G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1801G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1801G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1798G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1735G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1735G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1735G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1735G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1735G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1735G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1660G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1654G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1654G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1654G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1654G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1654G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1618G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1618G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1618G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1615G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1615G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1615G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1615G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1612G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1612G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1612G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1612G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1612G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1612G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1612G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1594G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1591G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1588G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1729G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1534G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1531G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1531G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1525G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1525G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1525G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1522G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1522G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1522G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1522G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1522G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1522G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1522G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1522G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1519G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1495G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1489G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1471G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1468G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1465G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1408G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1405G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1396G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1354G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1351G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1231G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5044G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4903G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1732G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5221G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001185347Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Jun 29, 2022) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
16267036

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.

Am J Hum Genet. 2007 Nov;81(5):873-83. Epub 2007 Sep 6.

PubMed [citation]
PMID:
17924331
PMCID:
PMC2265654
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV001185347.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)

Description

The p.E1682K variant (also known as c.5044G>A), located in coding exon 15 of the BRCA1 gene, results from a G to A substitution at nucleotide position 5044. The glutamic acid at codon 1682 is replaced by lysine, an amino acid with similar properties. This alteration has been reported to be found in trans with another BRCA1 pathogenic mutation (Judkins T et al. Cancer Res, 2005 Nov;65:10096-103). Multifactorial analyses determined that this alteration to be benign (Easton DF et al. Am J Hum Genet, 2007 Nov;81:873-83; Lindor NM et al. Hum Mutat, 2012 Jan;33:8-21). One protein functional study determined that this alteration was functional in protease sensitivity, peptide binding, peptide binding specificity, and transcriptional activity assays (Lee MS et al. Cancer Res, 2010 Jun;70:4880-90). One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay and was measured to have a decrease in mRNA expression (Findlay GM et al. Nature, 2018 10;562:217-222). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is conflicting at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024