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NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Oct 2, 2023
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:
RCV000112651.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe)]

NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe)

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.5425G>T (p.Val1809Phe)
HGVS:
  • NC_000017.11:g.43047685C>A
  • NG_005905.2:g.170299G>T
  • NM_001407571.1:c.5212G>T
  • NM_001407581.1:c.5491G>T
  • NM_001407582.1:c.5491G>T
  • NM_001407583.1:c.5488G>T
  • NM_001407585.1:c.5488G>T
  • NM_001407587.1:c.5488G>T
  • NM_001407590.1:c.5485G>T
  • NM_001407591.1:c.5485G>T
  • NM_001407593.1:c.5425G>T
  • NM_001407594.1:c.5425G>T
  • NM_001407596.1:c.5425G>T
  • NM_001407597.1:c.5425G>T
  • NM_001407598.1:c.5425G>T
  • NM_001407602.1:c.5425G>T
  • NM_001407603.1:c.5425G>T
  • NM_001407605.1:c.5425G>T
  • NM_001407610.1:c.5422G>T
  • NM_001407611.1:c.5422G>T
  • NM_001407612.1:c.5422G>T
  • NM_001407613.1:c.5422G>T
  • NM_001407614.1:c.5422G>T
  • NM_001407615.1:c.5422G>T
  • NM_001407616.1:c.5422G>T
  • NM_001407617.1:c.5422G>T
  • NM_001407618.1:c.5422G>T
  • NM_001407619.1:c.5422G>T
  • NM_001407620.1:c.5422G>T
  • NM_001407621.1:c.5422G>T
  • NM_001407622.1:c.5422G>T
  • NM_001407623.1:c.5422G>T
  • NM_001407624.1:c.5422G>T
  • NM_001407625.1:c.5422G>T
  • NM_001407626.1:c.5422G>T
  • NM_001407627.1:c.5419G>T
  • NM_001407628.1:c.5419G>T
  • NM_001407629.1:c.5419G>T
  • NM_001407630.1:c.5419G>T
  • NM_001407631.1:c.5419G>T
  • NM_001407632.1:c.5419G>T
  • NM_001407633.1:c.5419G>T
  • NM_001407634.1:c.5419G>T
  • NM_001407635.1:c.5419G>T
  • NM_001407636.1:c.5419G>T
  • NM_001407637.1:c.5419G>T
  • NM_001407638.1:c.5419G>T
  • NM_001407639.1:c.5419G>T
  • NM_001407640.1:c.5419G>T
  • NM_001407641.1:c.5419G>T
  • NM_001407642.1:c.5419G>T
  • NM_001407644.1:c.5416G>T
  • NM_001407645.1:c.5416G>T
  • NM_001407646.1:c.5413G>T
  • NM_001407647.1:c.5410G>T
  • NM_001407648.1:c.5368G>T
  • NM_001407649.1:c.5365G>T
  • NM_001407652.1:c.5347G>T
  • NM_001407653.1:c.5347G>T
  • NM_001407654.1:c.5347G>T
  • NM_001407655.1:c.5347G>T
  • NM_001407656.1:c.5344G>T
  • NM_001407657.1:c.5344G>T
  • NM_001407658.1:c.5344G>T
  • NM_001407659.1:c.5341G>T
  • NM_001407660.1:c.5341G>T
  • NM_001407661.1:c.5341G>T
  • NM_001407662.1:c.5341G>T
  • NM_001407663.1:c.5341G>T
  • NM_001407664.1:c.5302G>T
  • NM_001407665.1:c.5302G>T
  • NM_001407666.1:c.5302G>T
  • NM_001407667.1:c.5302G>T
  • NM_001407668.1:c.5302G>T
  • NM_001407669.1:c.5302G>T
  • NM_001407670.1:c.5299G>T
  • NM_001407671.1:c.5299G>T
  • NM_001407672.1:c.5299G>T
  • NM_001407673.1:c.5299G>T
  • NM_001407674.1:c.5299G>T
  • NM_001407675.1:c.5299G>T
  • NM_001407676.1:c.5299G>T
  • NM_001407677.1:c.5299G>T
  • NM_001407678.1:c.5299G>T
  • NM_001407679.1:c.5299G>T
  • NM_001407680.1:c.5299G>T
  • NM_001407681.1:c.5296G>T
  • NM_001407682.1:c.5296G>T
  • NM_001407683.1:c.5296G>T
  • NM_001407684.1:c.5296G>T
  • NM_001407685.1:c.5296G>T
  • NM_001407686.1:c.5296G>T
  • NM_001407687.1:c.5296G>T
  • NM_001407688.1:c.5296G>T
  • NM_001407689.1:c.5296G>T
  • NM_001407690.1:c.5293G>T
  • NM_001407691.1:c.5293G>T
  • NM_001407692.1:c.5284G>T
  • NM_001407694.1:c.5284G>T
  • NM_001407695.1:c.5284G>T
  • NM_001407696.1:c.5284G>T
  • NM_001407697.1:c.5284G>T
  • NM_001407698.1:c.5284G>T
  • NM_001407724.1:c.5284G>T
  • NM_001407725.1:c.5284G>T
  • NM_001407726.1:c.5284G>T
  • NM_001407727.1:c.5284G>T
  • NM_001407728.1:c.5284G>T
  • NM_001407729.1:c.5284G>T
  • NM_001407730.1:c.5284G>T
  • NM_001407731.1:c.5284G>T
  • NM_001407732.1:c.5281G>T
  • NM_001407733.1:c.5281G>T
  • NM_001407734.1:c.5281G>T
  • NM_001407735.1:c.5281G>T
  • NM_001407736.1:c.5281G>T
  • NM_001407737.1:c.5281G>T
  • NM_001407738.1:c.5281G>T
  • NM_001407739.1:c.5281G>T
  • NM_001407740.1:c.5281G>T
  • NM_001407741.1:c.5281G>T
  • NM_001407742.1:c.5281G>T
  • NM_001407743.1:c.5281G>T
  • NM_001407744.1:c.5281G>T
  • NM_001407745.1:c.5281G>T
  • NM_001407746.1:c.5281G>T
  • NM_001407747.1:c.5281G>T
  • NM_001407748.1:c.5281G>T
  • NM_001407749.1:c.5281G>T
  • NM_001407750.1:c.5281G>T
  • NM_001407751.1:c.5281G>T
  • NM_001407752.1:c.5281G>T
  • NM_001407838.1:c.5278G>T
  • NM_001407839.1:c.5278G>T
  • NM_001407841.1:c.5278G>T
  • NM_001407842.1:c.5278G>T
  • NM_001407843.1:c.5278G>T
  • NM_001407844.1:c.5278G>T
  • NM_001407845.1:c.5278G>T
  • NM_001407846.1:c.5278G>T
  • NM_001407847.1:c.5278G>T
  • NM_001407848.1:c.5278G>T
  • NM_001407849.1:c.5278G>T
  • NM_001407850.1:c.5278G>T
  • NM_001407851.1:c.5278G>T
  • NM_001407852.1:c.5278G>T
  • NM_001407853.1:c.5278G>T
  • NM_001407854.1:c.5351G>T
  • NM_001407858.1:c.5348G>T
  • NM_001407859.1:c.5348G>T
  • NM_001407860.1:c.5348G>T
  • NM_001407861.1:c.5345G>T
  • NM_001407862.1:c.5224G>T
  • NM_001407863.1:c.5221G>T
  • NM_001407874.1:c.5218G>T
  • NM_001407875.1:c.5218G>T
  • NM_001407879.1:c.5215G>T
  • NM_001407881.1:c.5215G>T
  • NM_001407882.1:c.5215G>T
  • NM_001407884.1:c.5215G>T
  • NM_001407885.1:c.5215G>T
  • NM_001407886.1:c.5215G>T
  • NM_001407887.1:c.5215G>T
  • NM_001407889.1:c.5215G>T
  • NM_001407894.1:c.5212G>T
  • NM_001407895.1:c.5212G>T
  • NM_001407896.1:c.5212G>T
  • NM_001407897.1:c.5212G>T
  • NM_001407898.1:c.5212G>T
  • NM_001407899.1:c.5212G>T
  • NM_001407900.1:c.5212G>T
  • NM_001407902.1:c.5212G>T
  • NM_001407904.1:c.5212G>T
  • NM_001407906.1:c.5212G>T
  • NM_001407907.1:c.5212G>T
  • NM_001407908.1:c.5212G>T
  • NM_001407909.1:c.5212G>T
  • NM_001407910.1:c.5212G>T
  • NM_001407915.1:c.5209G>T
  • NM_001407916.1:c.5209G>T
  • NM_001407917.1:c.5209G>T
  • NM_001407918.1:c.5209G>T
  • NM_001407919.1:c.5173G>T
  • NM_001407920.1:c.5161G>T
  • NM_001407921.1:c.5161G>T
  • NM_001407922.1:c.5161G>T
  • NM_001407923.1:c.5161G>T
  • NM_001407924.1:c.5161G>T
  • NM_001407925.1:c.5161G>T
  • NM_001407926.1:c.5161G>T
  • NM_001407927.1:c.5158G>T
  • NM_001407928.1:c.5158G>T
  • NM_001407929.1:c.5158G>T
  • NM_001407930.1:c.5158G>T
  • NM_001407931.1:c.5158G>T
  • NM_001407932.1:c.5158G>T
  • NM_001407933.1:c.5158G>T
  • NM_001407934.1:c.5155G>T
  • NM_001407935.1:c.5155G>T
  • NM_001407936.1:c.5155G>T
  • NM_001407937.1:c.5228G>T
  • NM_001407938.1:c.5228G>T
  • NM_001407939.1:c.5225G>T
  • NM_001407940.1:c.5225G>T
  • NM_001407941.1:c.5222G>T
  • NM_001407942.1:c.5210G>T
  • NM_001407943.1:c.5207G>T
  • NM_001407944.1:c.5207G>T
  • NM_001407945.1:c.5207G>T
  • NM_001407946.1:c.5092G>T
  • NM_001407947.1:c.5092G>T
  • NM_001407948.1:c.5092G>T
  • NM_001407949.1:c.5092G>T
  • NM_001407950.1:c.5089G>T
  • NM_001407951.1:c.5089G>T
  • NM_001407952.1:c.5089G>T
  • NM_001407953.1:c.5089G>T
  • NM_001407954.1:c.5089G>T
  • NM_001407955.1:c.5089G>T
  • NM_001407956.1:c.5086G>T
  • NM_001407957.1:c.5086G>T
  • NM_001407958.1:c.5086G>T
  • NM_001407959.1:c.5044G>T
  • NM_001407960.1:c.5041G>T
  • NM_001407962.1:c.5041G>T
  • NM_001407963.1:c.5038G>T
  • NM_001407964.1:c.4963G>T
  • NM_001407965.1:c.4918G>T
  • NM_001407966.1:c.4537G>T
  • NM_001407967.1:c.4534G>T
  • NM_001407968.1:c.2821G>T
  • NM_001407969.1:c.2818G>T
  • NM_001407970.1:c.2182G>T
  • NM_001407971.1:c.2182G>T
  • NM_001407972.1:c.2179G>T
  • NM_001407973.1:c.2116G>T
  • NM_001407974.1:c.2116G>T
  • NM_001407975.1:c.2116G>T
  • NM_001407976.1:c.2116G>T
  • NM_001407977.1:c.2116G>T
  • NM_001407978.1:c.2116G>T
  • NM_001407979.1:c.2113G>T
  • NM_001407980.1:c.2113G>T
  • NM_001407981.1:c.2113G>T
  • NM_001407982.1:c.2113G>T
  • NM_001407983.1:c.2113G>T
  • NM_001407984.1:c.2113G>T
  • NM_001407985.1:c.2113G>T
  • NM_001407986.1:c.2113G>T
  • NM_001407990.1:c.2113G>T
  • NM_001407991.1:c.2113G>T
  • NM_001407992.1:c.2113G>T
  • NM_001407993.1:c.2113G>T
  • NM_001408392.1:c.2110G>T
  • NM_001408396.1:c.2110G>T
  • NM_001408397.1:c.2110G>T
  • NM_001408398.1:c.2110G>T
  • NM_001408399.1:c.2110G>T
  • NM_001408400.1:c.2110G>T
  • NM_001408401.1:c.2110G>T
  • NM_001408402.1:c.2110G>T
  • NM_001408403.1:c.2110G>T
  • NM_001408404.1:c.2110G>T
  • NM_001408406.1:c.2107G>T
  • NM_001408407.1:c.2107G>T
  • NM_001408408.1:c.2107G>T
  • NM_001408409.1:c.2104G>T
  • NM_001408410.1:c.2041G>T
  • NM_001408411.1:c.2038G>T
  • NM_001408412.1:c.2035G>T
  • NM_001408413.1:c.2035G>T
  • NM_001408414.1:c.2035G>T
  • NM_001408415.1:c.2035G>T
  • NM_001408416.1:c.2035G>T
  • NM_001408418.1:c.1999G>T
  • NM_001408419.1:c.1999G>T
  • NM_001408420.1:c.1999G>T
  • NM_001408421.1:c.1996G>T
  • NM_001408422.1:c.1996G>T
  • NM_001408423.1:c.1996G>T
  • NM_001408424.1:c.1996G>T
  • NM_001408425.1:c.1993G>T
  • NM_001408426.1:c.1993G>T
  • NM_001408427.1:c.1993G>T
  • NM_001408428.1:c.1993G>T
  • NM_001408429.1:c.1993G>T
  • NM_001408430.1:c.1993G>T
  • NM_001408431.1:c.1993G>T
  • NM_001408432.1:c.1990G>T
  • NM_001408433.1:c.1990G>T
  • NM_001408434.1:c.1990G>T
  • NM_001408435.1:c.1990G>T
  • NM_001408436.1:c.1990G>T
  • NM_001408437.1:c.1990G>T
  • NM_001408438.1:c.1990G>T
  • NM_001408439.1:c.1990G>T
  • NM_001408440.1:c.1990G>T
  • NM_001408441.1:c.1990G>T
  • NM_001408442.1:c.1990G>T
  • NM_001408443.1:c.1990G>T
  • NM_001408444.1:c.1990G>T
  • NM_001408445.1:c.1987G>T
  • NM_001408446.1:c.1987G>T
  • NM_001408447.1:c.1987G>T
  • NM_001408448.1:c.1987G>T
  • NM_001408450.1:c.1987G>T
  • NM_001408451.1:c.1981G>T
  • NM_001408452.1:c.1975G>T
  • NM_001408453.1:c.1975G>T
  • NM_001408454.1:c.1975G>T
  • NM_001408455.1:c.1975G>T
  • NM_001408456.1:c.1975G>T
  • NM_001408457.1:c.1975G>T
  • NM_001408458.1:c.1972G>T
  • NM_001408459.1:c.1972G>T
  • NM_001408460.1:c.1972G>T
  • NM_001408461.1:c.1972G>T
  • NM_001408462.1:c.1972G>T
  • NM_001408463.1:c.1972G>T
  • NM_001408464.1:c.1972G>T
  • NM_001408465.1:c.1972G>T
  • NM_001408466.1:c.1972G>T
  • NM_001408467.1:c.1972G>T
  • NM_001408468.1:c.1969G>T
  • NM_001408469.1:c.1969G>T
  • NM_001408470.1:c.1969G>T
  • NM_001408472.1:c.2039G>T
  • NM_001408473.1:c.2036G>T
  • NM_001408474.1:c.1915G>T
  • NM_001408475.1:c.1912G>T
  • NM_001408476.1:c.1912G>T
  • NM_001408478.1:c.1906G>T
  • NM_001408479.1:c.1906G>T
  • NM_001408480.1:c.1906G>T
  • NM_001408481.1:c.1903G>T
  • NM_001408482.1:c.1903G>T
  • NM_001408483.1:c.1903G>T
  • NM_001408484.1:c.1903G>T
  • NM_001408485.1:c.1903G>T
  • NM_001408489.1:c.1903G>T
  • NM_001408490.1:c.1903G>T
  • NM_001408491.1:c.1903G>T
  • NM_001408492.1:c.1900G>T
  • NM_001408493.1:c.1900G>T
  • NM_001408494.1:c.1876G>T
  • NM_001408495.1:c.1870G>T
  • NM_001408496.1:c.1852G>T
  • NM_001408497.1:c.1852G>T
  • NM_001408498.1:c.1852G>T
  • NM_001408499.1:c.1852G>T
  • NM_001408500.1:c.1852G>T
  • NM_001408501.1:c.1852G>T
  • NM_001408502.1:c.1849G>T
  • NM_001408503.1:c.1849G>T
  • NM_001408504.1:c.1849G>T
  • NM_001408505.1:c.1846G>T
  • NM_001408506.1:c.1789G>T
  • NM_001408507.1:c.1786G>T
  • NM_001408508.1:c.1777G>T
  • NM_001408509.1:c.1774G>T
  • NM_001408510.1:c.1735G>T
  • NM_001408511.1:c.1732G>T
  • NM_001408512.1:c.1612G>T
  • NM_001408513.1:c.1585G>T
  • NM_001408514.1:c.1189G>T
  • NM_007294.4:c.5425G>TMANE SELECT
  • NM_007297.4:c.5284G>T
  • NM_007298.4:c.2113G>T
  • NM_007299.4:c.2039G>T
  • NM_007300.4:c.5488G>T
  • NM_007304.2:c.2113G>T
  • NP_001394500.1:p.Val1738Phe
  • NP_001394510.1:p.Val1831Phe
  • NP_001394511.1:p.Val1831Phe
  • NP_001394512.1:p.Val1830Phe
  • NP_001394514.1:p.Val1830Phe
  • NP_001394516.1:p.Val1830Phe
  • NP_001394519.1:p.Val1829Phe
  • NP_001394520.1:p.Val1829Phe
  • NP_001394522.1:p.Val1809Phe
  • NP_001394523.1:p.Val1809Phe
  • NP_001394525.1:p.Val1809Phe
  • NP_001394526.1:p.Val1809Phe
  • NP_001394527.1:p.Val1809Phe
  • NP_001394531.1:p.Val1809Phe
  • NP_001394532.1:p.Val1809Phe
  • NP_001394534.1:p.Val1809Phe
  • NP_001394539.1:p.Val1808Phe
  • NP_001394540.1:p.Val1808Phe
  • NP_001394541.1:p.Val1808Phe
  • NP_001394542.1:p.Val1808Phe
  • NP_001394543.1:p.Val1808Phe
  • NP_001394544.1:p.Val1808Phe
  • NP_001394545.1:p.Val1808Phe
  • NP_001394546.1:p.Val1808Phe
  • NP_001394547.1:p.Val1808Phe
  • NP_001394548.1:p.Val1808Phe
  • NP_001394549.1:p.Val1808Phe
  • NP_001394550.1:p.Val1808Phe
  • NP_001394551.1:p.Val1808Phe
  • NP_001394552.1:p.Val1808Phe
  • NP_001394553.1:p.Val1808Phe
  • NP_001394554.1:p.Val1808Phe
  • NP_001394555.1:p.Val1808Phe
  • NP_001394556.1:p.Val1807Phe
  • NP_001394557.1:p.Val1807Phe
  • NP_001394558.1:p.Val1807Phe
  • NP_001394559.1:p.Val1807Phe
  • NP_001394560.1:p.Val1807Phe
  • NP_001394561.1:p.Val1807Phe
  • NP_001394562.1:p.Val1807Phe
  • NP_001394563.1:p.Val1807Phe
  • NP_001394564.1:p.Val1807Phe
  • NP_001394565.1:p.Val1807Phe
  • NP_001394566.1:p.Val1807Phe
  • NP_001394567.1:p.Val1807Phe
  • NP_001394568.1:p.Val1807Phe
  • NP_001394569.1:p.Val1807Phe
  • NP_001394570.1:p.Val1807Phe
  • NP_001394571.1:p.Val1807Phe
  • NP_001394573.1:p.Val1806Phe
  • NP_001394574.1:p.Val1806Phe
  • NP_001394575.1:p.Val1805Phe
  • NP_001394576.1:p.Val1804Phe
  • NP_001394577.1:p.Val1790Phe
  • NP_001394578.1:p.Val1789Phe
  • NP_001394581.1:p.Val1783Phe
  • NP_001394582.1:p.Val1783Phe
  • NP_001394583.1:p.Val1783Phe
  • NP_001394584.1:p.Val1783Phe
  • NP_001394585.1:p.Val1782Phe
  • NP_001394586.1:p.Val1782Phe
  • NP_001394587.1:p.Val1782Phe
  • NP_001394588.1:p.Val1781Phe
  • NP_001394589.1:p.Val1781Phe
  • NP_001394590.1:p.Val1781Phe
  • NP_001394591.1:p.Val1781Phe
  • NP_001394592.1:p.Val1781Phe
  • NP_001394593.1:p.Val1768Phe
  • NP_001394594.1:p.Val1768Phe
  • NP_001394595.1:p.Val1768Phe
  • NP_001394596.1:p.Val1768Phe
  • NP_001394597.1:p.Val1768Phe
  • NP_001394598.1:p.Val1768Phe
  • NP_001394599.1:p.Val1767Phe
  • NP_001394600.1:p.Val1767Phe
  • NP_001394601.1:p.Val1767Phe
  • NP_001394602.1:p.Val1767Phe
  • NP_001394603.1:p.Val1767Phe
  • NP_001394604.1:p.Val1767Phe
  • NP_001394605.1:p.Val1767Phe
  • NP_001394606.1:p.Val1767Phe
  • NP_001394607.1:p.Val1767Phe
  • NP_001394608.1:p.Val1767Phe
  • NP_001394609.1:p.Val1767Phe
  • NP_001394610.1:p.Val1766Phe
  • NP_001394611.1:p.Val1766Phe
  • NP_001394612.1:p.Val1766Phe
  • NP_001394613.1:p.Val1766Phe
  • NP_001394614.1:p.Val1766Phe
  • NP_001394615.1:p.Val1766Phe
  • NP_001394616.1:p.Val1766Phe
  • NP_001394617.1:p.Val1766Phe
  • NP_001394618.1:p.Val1766Phe
  • NP_001394619.1:p.Val1765Phe
  • NP_001394620.1:p.Val1765Phe
  • NP_001394621.1:p.Val1762Phe
  • NP_001394623.1:p.Val1762Phe
  • NP_001394624.1:p.Val1762Phe
  • NP_001394625.1:p.Val1762Phe
  • NP_001394626.1:p.Val1762Phe
  • NP_001394627.1:p.Val1762Phe
  • NP_001394653.1:p.Val1762Phe
  • NP_001394654.1:p.Val1762Phe
  • NP_001394655.1:p.Val1762Phe
  • NP_001394656.1:p.Val1762Phe
  • NP_001394657.1:p.Val1762Phe
  • NP_001394658.1:p.Val1762Phe
  • NP_001394659.1:p.Val1762Phe
  • NP_001394660.1:p.Val1762Phe
  • NP_001394661.1:p.Val1761Phe
  • NP_001394662.1:p.Val1761Phe
  • NP_001394663.1:p.Val1761Phe
  • NP_001394664.1:p.Val1761Phe
  • NP_001394665.1:p.Val1761Phe
  • NP_001394666.1:p.Val1761Phe
  • NP_001394667.1:p.Val1761Phe
  • NP_001394668.1:p.Val1761Phe
  • NP_001394669.1:p.Val1761Phe
  • NP_001394670.1:p.Val1761Phe
  • NP_001394671.1:p.Val1761Phe
  • NP_001394672.1:p.Val1761Phe
  • NP_001394673.1:p.Val1761Phe
  • NP_001394674.1:p.Val1761Phe
  • NP_001394675.1:p.Val1761Phe
  • NP_001394676.1:p.Val1761Phe
  • NP_001394677.1:p.Val1761Phe
  • NP_001394678.1:p.Val1761Phe
  • NP_001394679.1:p.Val1761Phe
  • NP_001394680.1:p.Val1761Phe
  • NP_001394681.1:p.Val1761Phe
  • NP_001394767.1:p.Val1760Phe
  • NP_001394768.1:p.Val1760Phe
  • NP_001394770.1:p.Val1760Phe
  • NP_001394771.1:p.Val1760Phe
  • NP_001394772.1:p.Val1760Phe
  • NP_001394773.1:p.Val1760Phe
  • NP_001394774.1:p.Val1760Phe
  • NP_001394775.1:p.Val1760Phe
  • NP_001394776.1:p.Val1760Phe
  • NP_001394777.1:p.Val1760Phe
  • NP_001394778.1:p.Val1760Phe
  • NP_001394779.1:p.Val1760Phe
  • NP_001394780.1:p.Val1760Phe
  • NP_001394781.1:p.Val1760Phe
  • NP_001394782.1:p.Val1760Phe
  • NP_001394783.1:p.Gly1784Val
  • NP_001394787.1:p.Gly1783Val
  • NP_001394788.1:p.Gly1783Val
  • NP_001394789.1:p.Gly1783Val
  • NP_001394790.1:p.Gly1782Val
  • NP_001394791.1:p.Val1742Phe
  • NP_001394792.1:p.Val1741Phe
  • NP_001394803.1:p.Val1740Phe
  • NP_001394804.1:p.Val1740Phe
  • NP_001394808.1:p.Val1739Phe
  • NP_001394810.1:p.Val1739Phe
  • NP_001394811.1:p.Val1739Phe
  • NP_001394813.1:p.Val1739Phe
  • NP_001394814.1:p.Val1739Phe
  • NP_001394815.1:p.Val1739Phe
  • NP_001394816.1:p.Val1739Phe
  • NP_001394818.1:p.Val1739Phe
  • NP_001394823.1:p.Val1738Phe
  • NP_001394824.1:p.Val1738Phe
  • NP_001394825.1:p.Val1738Phe
  • NP_001394826.1:p.Val1738Phe
  • NP_001394827.1:p.Val1738Phe
  • NP_001394828.1:p.Val1738Phe
  • NP_001394829.1:p.Val1738Phe
  • NP_001394831.1:p.Val1738Phe
  • NP_001394833.1:p.Val1738Phe
  • NP_001394835.1:p.Val1738Phe
  • NP_001394836.1:p.Val1738Phe
  • NP_001394837.1:p.Val1738Phe
  • NP_001394838.1:p.Val1738Phe
  • NP_001394839.1:p.Val1738Phe
  • NP_001394844.1:p.Val1737Phe
  • NP_001394845.1:p.Val1737Phe
  • NP_001394846.1:p.Val1737Phe
  • NP_001394847.1:p.Val1737Phe
  • NP_001394848.1:p.Val1725Phe
  • NP_001394849.1:p.Val1721Phe
  • NP_001394850.1:p.Val1721Phe
  • NP_001394851.1:p.Val1721Phe
  • NP_001394852.1:p.Val1721Phe
  • NP_001394853.1:p.Val1721Phe
  • NP_001394854.1:p.Val1721Phe
  • NP_001394855.1:p.Val1721Phe
  • NP_001394856.1:p.Val1720Phe
  • NP_001394857.1:p.Val1720Phe
  • NP_001394858.1:p.Val1720Phe
  • NP_001394859.1:p.Val1720Phe
  • NP_001394860.1:p.Val1720Phe
  • NP_001394861.1:p.Val1720Phe
  • NP_001394862.1:p.Val1720Phe
  • NP_001394863.1:p.Val1719Phe
  • NP_001394864.1:p.Val1719Phe
  • NP_001394865.1:p.Val1719Phe
  • NP_001394866.1:p.Gly1743Val
  • NP_001394867.1:p.Gly1743Val
  • NP_001394868.1:p.Gly1742Val
  • NP_001394869.1:p.Gly1742Val
  • NP_001394870.1:p.Gly1741Val
  • NP_001394871.1:p.Gly1737Val
  • NP_001394872.1:p.Gly1736Val
  • NP_001394873.1:p.Gly1736Val
  • NP_001394874.1:p.Gly1736Val
  • NP_001394875.1:p.Val1698Phe
  • NP_001394876.1:p.Val1698Phe
  • NP_001394877.1:p.Val1698Phe
  • NP_001394878.1:p.Val1698Phe
  • NP_001394879.1:p.Val1697Phe
  • NP_001394880.1:p.Val1697Phe
  • NP_001394881.1:p.Val1697Phe
  • NP_001394882.1:p.Val1697Phe
  • NP_001394883.1:p.Val1697Phe
  • NP_001394884.1:p.Val1697Phe
  • NP_001394885.1:p.Val1696Phe
  • NP_001394886.1:p.Val1696Phe
  • NP_001394887.1:p.Val1696Phe
  • NP_001394888.1:p.Val1682Phe
  • NP_001394889.1:p.Val1681Phe
  • NP_001394891.1:p.Val1681Phe
  • NP_001394892.1:p.Val1680Phe
  • NP_001394893.1:p.Val1655Phe
  • NP_001394894.1:p.Val1640Phe
  • NP_001394895.1:p.Val1513Phe
  • NP_001394896.1:p.Val1512Phe
  • NP_001394897.1:p.Val941Phe
  • NP_001394898.1:p.Val940Phe
  • NP_001394899.1:p.Val728Phe
  • NP_001394900.1:p.Val728Phe
  • NP_001394901.1:p.Val727Phe
  • NP_001394902.1:p.Val706Phe
  • NP_001394903.1:p.Val706Phe
  • NP_001394904.1:p.Val706Phe
  • NP_001394905.1:p.Val706Phe
  • NP_001394906.1:p.Val706Phe
  • NP_001394907.1:p.Val706Phe
  • NP_001394908.1:p.Val705Phe
  • NP_001394909.1:p.Val705Phe
  • NP_001394910.1:p.Val705Phe
  • NP_001394911.1:p.Val705Phe
  • NP_001394912.1:p.Val705Phe
  • NP_001394913.1:p.Val705Phe
  • NP_001394914.1:p.Val705Phe
  • NP_001394915.1:p.Val705Phe
  • NP_001394919.1:p.Val705Phe
  • NP_001394920.1:p.Val705Phe
  • NP_001394921.1:p.Val705Phe
  • NP_001394922.1:p.Val705Phe
  • NP_001395321.1:p.Val704Phe
  • NP_001395325.1:p.Val704Phe
  • NP_001395326.1:p.Val704Phe
  • NP_001395327.1:p.Val704Phe
  • NP_001395328.1:p.Val704Phe
  • NP_001395329.1:p.Val704Phe
  • NP_001395330.1:p.Val704Phe
  • NP_001395331.1:p.Val704Phe
  • NP_001395332.1:p.Val704Phe
  • NP_001395333.1:p.Val704Phe
  • NP_001395335.1:p.Val703Phe
  • NP_001395336.1:p.Val703Phe
  • NP_001395337.1:p.Val703Phe
  • NP_001395338.1:p.Val702Phe
  • NP_001395339.1:p.Val681Phe
  • NP_001395340.1:p.Val680Phe
  • NP_001395341.1:p.Val679Phe
  • NP_001395342.1:p.Val679Phe
  • NP_001395343.1:p.Val679Phe
  • NP_001395344.1:p.Val679Phe
  • NP_001395345.1:p.Val679Phe
  • NP_001395347.1:p.Val667Phe
  • NP_001395348.1:p.Val667Phe
  • NP_001395349.1:p.Val667Phe
  • NP_001395350.1:p.Val666Phe
  • NP_001395351.1:p.Val666Phe
  • NP_001395352.1:p.Val666Phe
  • NP_001395353.1:p.Val666Phe
  • NP_001395354.1:p.Val665Phe
  • NP_001395355.1:p.Val665Phe
  • NP_001395356.1:p.Val665Phe
  • NP_001395357.1:p.Val665Phe
  • NP_001395358.1:p.Val665Phe
  • NP_001395359.1:p.Val665Phe
  • NP_001395360.1:p.Val665Phe
  • NP_001395361.1:p.Val664Phe
  • NP_001395362.1:p.Val664Phe
  • NP_001395363.1:p.Val664Phe
  • NP_001395364.1:p.Val664Phe
  • NP_001395365.1:p.Val664Phe
  • NP_001395366.1:p.Val664Phe
  • NP_001395367.1:p.Val664Phe
  • NP_001395368.1:p.Val664Phe
  • NP_001395369.1:p.Val664Phe
  • NP_001395370.1:p.Val664Phe
  • NP_001395371.1:p.Val664Phe
  • NP_001395372.1:p.Val664Phe
  • NP_001395373.1:p.Val664Phe
  • NP_001395374.1:p.Val663Phe
  • NP_001395375.1:p.Val663Phe
  • NP_001395376.1:p.Val663Phe
  • NP_001395377.1:p.Val663Phe
  • NP_001395379.1:p.Val663Phe
  • NP_001395380.1:p.Val661Phe
  • NP_001395381.1:p.Val659Phe
  • NP_001395382.1:p.Val659Phe
  • NP_001395383.1:p.Val659Phe
  • NP_001395384.1:p.Val659Phe
  • NP_001395385.1:p.Val659Phe
  • NP_001395386.1:p.Val659Phe
  • NP_001395387.1:p.Val658Phe
  • NP_001395388.1:p.Val658Phe
  • NP_001395389.1:p.Val658Phe
  • NP_001395390.1:p.Val658Phe
  • NP_001395391.1:p.Val658Phe
  • NP_001395392.1:p.Val658Phe
  • NP_001395393.1:p.Val658Phe
  • NP_001395394.1:p.Val658Phe
  • NP_001395395.1:p.Val658Phe
  • NP_001395396.1:p.Val658Phe
  • NP_001395397.1:p.Val657Phe
  • NP_001395398.1:p.Val657Phe
  • NP_001395399.1:p.Val657Phe
  • NP_001395401.1:p.Gly680Val
  • NP_001395402.1:p.Gly679Val
  • NP_001395403.1:p.Val639Phe
  • NP_001395404.1:p.Val638Phe
  • NP_001395405.1:p.Val638Phe
  • NP_001395407.1:p.Val636Phe
  • NP_001395408.1:p.Val636Phe
  • NP_001395409.1:p.Val636Phe
  • NP_001395410.1:p.Val635Phe
  • NP_001395411.1:p.Val635Phe
  • NP_001395412.1:p.Val635Phe
  • NP_001395413.1:p.Val635Phe
  • NP_001395414.1:p.Val635Phe
  • NP_001395418.1:p.Val635Phe
  • NP_001395419.1:p.Val635Phe
  • NP_001395420.1:p.Val635Phe
  • NP_001395421.1:p.Val634Phe
  • NP_001395422.1:p.Val634Phe
  • NP_001395423.1:p.Val626Phe
  • NP_001395424.1:p.Val624Phe
  • NP_001395425.1:p.Val618Phe
  • NP_001395426.1:p.Val618Phe
  • NP_001395427.1:p.Val618Phe
  • NP_001395428.1:p.Val618Phe
  • NP_001395429.1:p.Val618Phe
  • NP_001395430.1:p.Val618Phe
  • NP_001395431.1:p.Val617Phe
  • NP_001395432.1:p.Val617Phe
  • NP_001395433.1:p.Val617Phe
  • NP_001395434.1:p.Val616Phe
  • NP_001395435.1:p.Val597Phe
  • NP_001395436.1:p.Val596Phe
  • NP_001395437.1:p.Val593Phe
  • NP_001395438.1:p.Val592Phe
  • NP_001395439.1:p.Val579Phe
  • NP_001395440.1:p.Val578Phe
  • NP_001395441.1:p.Val538Phe
  • NP_001395442.1:p.Val529Phe
  • NP_001395443.1:p.Val397Phe
  • NP_009225.1:p.Val1809Phe
  • NP_009225.1:p.Val1809Phe
  • NP_009228.2:p.Val1762Phe
  • NP_009229.2:p.Val705Phe
  • NP_009229.2:p.Val705Phe
  • NP_009230.2:p.Gly680Val
  • NP_009231.2:p.Val1830Phe
  • NP_009235.2:p.Val705Phe
  • LRG_292t1:c.5425G>T
  • LRG_292:g.170299G>T
  • LRG_292p1:p.Val1809Phe
  • NC_000017.10:g.41199702C>A
  • NM_007294.3:c.5425G>T
  • NM_007298.3:c.2113G>T
  • NR_027676.2:n.5602G>T
  • U14680.1:n.5544G>T
Protein change:
G1736V
Links:
dbSNP: rs28897698
NCBI 1000 Genomes Browser:
rs28897698
Molecular consequence:
  • NM_001407571.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5491G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5491G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5488G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5488G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5488G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5485G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5485G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5422G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5419G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5416G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5416G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5413G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5410G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5347G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5347G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5347G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5347G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5344G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5344G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5344G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5341G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5341G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5341G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5341G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5341G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5302G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5302G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5302G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5302G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5302G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5302G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5299G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5299G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5299G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5299G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5299G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5299G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5299G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5299G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5299G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5299G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5299G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5296G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5296G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5296G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5296G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5296G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5296G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5296G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5296G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5296G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5293G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5293G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5281G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5278G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5351G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5348G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5348G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5348G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5345G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.5221G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.5218G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.5218G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.5215G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.5215G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.5215G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.5215G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.5215G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.5215G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.5215G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.5215G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.5212G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.5209G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.5209G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.5209G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.5209G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.5173G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.5155G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.5155G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.5155G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.5228G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.5228G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.5225G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.5225G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.5222G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.5210G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.5207G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.5207G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.5207G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.5092G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.5092G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.5092G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.5092G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.5089G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.5089G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.5089G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.5089G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.5089G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.5089G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.5086G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.5086G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.5086G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.5044G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.5041G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.5041G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.5038G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4963G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4918G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4537G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4534G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2821G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2818G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.2182G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.2182G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.2179G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.2116G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.2116G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.2116G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.2116G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.2116G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.2116G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.2110G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.2110G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.2110G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.2110G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.2110G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.2110G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.2110G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.2110G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.2110G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.2110G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.2107G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.2107G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.2107G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.2104G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.2041G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.2038G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.2035G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.2035G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.2035G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.2035G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.2035G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1999G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1999G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1999G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1996G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1996G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1996G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1996G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1993G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1993G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1993G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1993G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1993G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1993G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1993G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1987G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1987G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1987G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1987G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1987G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1981G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1975G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1975G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1975G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1975G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1975G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1975G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1969G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1969G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1969G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.2039G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.2036G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1915G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1912G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1912G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1906G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1906G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1906G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1903G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1900G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1900G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1876G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1870G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1852G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1852G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1852G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1852G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1852G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1852G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1846G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1789G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1786G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1777G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1774G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1732G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1612G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1585G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.1189G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5284G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.2039G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5488G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.2113G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5602G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
6

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000145509Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(May 29, 2002) 		germlineclinical testing

SCV004817546All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Pathogenic
(Oct 2, 2023) 		germlineclinical testing

PubMed (13)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot provided108544not providedclinical testing
Western Europeangermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.

Williams RS, Chasman DI, Hau DD, Hui B, Lau AY, Glover JN.

J Biol Chem. 2003 Dec 26;278(52):53007-16. Epub 2003 Oct 8.

PubMed [citation]
PMID:
14534301

Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1.

Williams RS, Lee MS, Hau DD, Glover JN.

Nat Struct Mol Biol. 2004 Jun;11(6):519-25. Epub 2004 May 9.

PubMed [citation]
PMID:
15133503
See all PubMed Citations (13)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145509.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
2Western European2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided
2germlineyesnot providednot providednot provided2not providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004817546.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (13)

Description

This missense variant replaces valine with phenylalanine at codon 1809 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies have reported that this variant impacts BRCA1 in homology-directed repair, transcription activation and cisplatin and olaparib sensitivity assays and may compromise protein stability, protein localization, and protein-protein interaction (PMID: 14534301, 15133503, 15689452, 16528612, 19452558, 20516115, 28781887, 32546644, 34083286). This variant has been observed in multiple individuals affected with breast cancer from at least three unrelated families (PMID: 15689452, 18465347, 31300551, 33471991; Leiden Open Variation Database DB-ID BRCA1_000474), including an individual affected with breast and endometrial cancer (PMID: 31300551) and the co-segregation with four affected members of a hereditary breast cancer family (PMID: 15689452). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024