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NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) AND Malignant tumor of prostate

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 1, 2014
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:
RCV000148398.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)]

NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)

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.2167A>G (p.Asn723Asp)
Other names:
p.N723D:AAT>GAT; NP_009225.1:p.Asn723Asp
HGVS:
  • NC_000017.11:g.43093364T>C
  • NG_005905.2:g.124620A>G
  • NM_001407571.1:c.1954A>G
  • NM_001407581.1:c.2167A>G
  • NM_001407582.1:c.2167A>G
  • NM_001407583.1:c.2167A>G
  • NM_001407585.1:c.2167A>G
  • NM_001407587.1:c.2164A>G
  • NM_001407590.1:c.2164A>G
  • NM_001407591.1:c.2164A>G
  • NM_001407593.1:c.2167A>G
  • NM_001407594.1:c.2167A>G
  • NM_001407596.1:c.2167A>G
  • NM_001407597.1:c.2167A>G
  • NM_001407598.1:c.2167A>G
  • NM_001407602.1:c.2167A>G
  • NM_001407603.1:c.2167A>G
  • NM_001407605.1:c.2167A>G
  • NM_001407610.1:c.2164A>G
  • NM_001407611.1:c.2164A>G
  • NM_001407612.1:c.2164A>G
  • NM_001407613.1:c.2164A>G
  • NM_001407614.1:c.2164A>G
  • NM_001407615.1:c.2164A>G
  • NM_001407616.1:c.2167A>G
  • NM_001407617.1:c.2167A>G
  • NM_001407618.1:c.2167A>G
  • NM_001407619.1:c.2167A>G
  • NM_001407620.1:c.2167A>G
  • NM_001407621.1:c.2167A>G
  • NM_001407622.1:c.2167A>G
  • NM_001407623.1:c.2167A>G
  • NM_001407624.1:c.2167A>G
  • NM_001407625.1:c.2167A>G
  • NM_001407626.1:c.2167A>G
  • NM_001407627.1:c.2164A>G
  • NM_001407628.1:c.2164A>G
  • NM_001407629.1:c.2164A>G
  • NM_001407630.1:c.2164A>G
  • NM_001407631.1:c.2164A>G
  • NM_001407632.1:c.2164A>G
  • NM_001407633.1:c.2164A>G
  • NM_001407634.1:c.2164A>G
  • NM_001407635.1:c.2164A>G
  • NM_001407636.1:c.2164A>G
  • NM_001407637.1:c.2164A>G
  • NM_001407638.1:c.2164A>G
  • NM_001407639.1:c.2167A>G
  • NM_001407640.1:c.2167A>G
  • NM_001407641.1:c.2167A>G
  • NM_001407642.1:c.2167A>G
  • NM_001407644.1:c.2164A>G
  • NM_001407645.1:c.2164A>G
  • NM_001407646.1:c.2158A>G
  • NM_001407647.1:c.2158A>G
  • NM_001407648.1:c.2044A>G
  • NM_001407649.1:c.2041A>G
  • NM_001407652.1:c.2167A>G
  • NM_001407653.1:c.2089A>G
  • NM_001407654.1:c.2089A>G
  • NM_001407655.1:c.2089A>G
  • NM_001407656.1:c.2089A>G
  • NM_001407657.1:c.2089A>G
  • NM_001407658.1:c.2089A>G
  • NM_001407659.1:c.2086A>G
  • NM_001407660.1:c.2086A>G
  • NM_001407661.1:c.2086A>G
  • NM_001407662.1:c.2086A>G
  • NM_001407663.1:c.2089A>G
  • NM_001407664.1:c.2044A>G
  • NM_001407665.1:c.2044A>G
  • NM_001407666.1:c.2044A>G
  • NM_001407667.1:c.2044A>G
  • NM_001407668.1:c.2044A>G
  • NM_001407669.1:c.2044A>G
  • NM_001407670.1:c.2041A>G
  • NM_001407671.1:c.2041A>G
  • NM_001407672.1:c.2041A>G
  • NM_001407673.1:c.2041A>G
  • NM_001407674.1:c.2044A>G
  • NM_001407675.1:c.2044A>G
  • NM_001407676.1:c.2044A>G
  • NM_001407677.1:c.2044A>G
  • NM_001407678.1:c.2044A>G
  • NM_001407679.1:c.2044A>G
  • NM_001407680.1:c.2044A>G
  • NM_001407681.1:c.2044A>G
  • NM_001407682.1:c.2044A>G
  • NM_001407683.1:c.2044A>G
  • NM_001407684.1:c.2167A>G
  • NM_001407685.1:c.2041A>G
  • NM_001407686.1:c.2041A>G
  • NM_001407687.1:c.2041A>G
  • NM_001407688.1:c.2041A>G
  • NM_001407689.1:c.2041A>G
  • NM_001407690.1:c.2041A>G
  • NM_001407691.1:c.2041A>G
  • NM_001407692.1:c.2026A>G
  • NM_001407694.1:c.2026A>G
  • NM_001407695.1:c.2026A>G
  • NM_001407696.1:c.2026A>G
  • NM_001407697.1:c.2026A>G
  • NM_001407698.1:c.2026A>G
  • NM_001407724.1:c.2026A>G
  • NM_001407725.1:c.2026A>G
  • NM_001407726.1:c.2026A>G
  • NM_001407727.1:c.2026A>G
  • NM_001407728.1:c.2026A>G
  • NM_001407729.1:c.2026A>G
  • NM_001407730.1:c.2026A>G
  • NM_001407731.1:c.2026A>G
  • NM_001407732.1:c.2026A>G
  • NM_001407733.1:c.2026A>G
  • NM_001407734.1:c.2026A>G
  • NM_001407735.1:c.2026A>G
  • NM_001407736.1:c.2026A>G
  • NM_001407737.1:c.2026A>G
  • NM_001407738.1:c.2026A>G
  • NM_001407739.1:c.2026A>G
  • NM_001407740.1:c.2023A>G
  • NM_001407741.1:c.2023A>G
  • NM_001407742.1:c.2023A>G
  • NM_001407743.1:c.2023A>G
  • NM_001407744.1:c.2023A>G
  • NM_001407745.1:c.2023A>G
  • NM_001407746.1:c.2023A>G
  • NM_001407747.1:c.2023A>G
  • NM_001407748.1:c.2023A>G
  • NM_001407749.1:c.2023A>G
  • NM_001407750.1:c.2026A>G
  • NM_001407751.1:c.2026A>G
  • NM_001407752.1:c.2026A>G
  • NM_001407838.1:c.2023A>G
  • NM_001407839.1:c.2023A>G
  • NM_001407841.1:c.2023A>G
  • NM_001407842.1:c.2023A>G
  • NM_001407843.1:c.2023A>G
  • NM_001407844.1:c.2023A>G
  • NM_001407845.1:c.2023A>G
  • NM_001407846.1:c.2023A>G
  • NM_001407847.1:c.2023A>G
  • NM_001407848.1:c.2023A>G
  • NM_001407849.1:c.2023A>G
  • NM_001407850.1:c.2026A>G
  • NM_001407851.1:c.2026A>G
  • NM_001407852.1:c.2026A>G
  • NM_001407853.1:c.1954A>G
  • NM_001407854.1:c.2167A>G
  • NM_001407858.1:c.2167A>G
  • NM_001407859.1:c.2167A>G
  • NM_001407860.1:c.2164A>G
  • NM_001407861.1:c.2164A>G
  • NM_001407862.1:c.1966A>G
  • NM_001407863.1:c.2044A>G
  • NM_001407874.1:c.1963A>G
  • NM_001407875.1:c.1963A>G
  • NM_001407879.1:c.1957A>G
  • NM_001407881.1:c.1957A>G
  • NM_001407882.1:c.1957A>G
  • NM_001407884.1:c.1957A>G
  • NM_001407885.1:c.1957A>G
  • NM_001407886.1:c.1957A>G
  • NM_001407887.1:c.1957A>G
  • NM_001407889.1:c.1957A>G
  • NM_001407894.1:c.1954A>G
  • NM_001407895.1:c.1954A>G
  • NM_001407896.1:c.1954A>G
  • NM_001407897.1:c.1954A>G
  • NM_001407898.1:c.1954A>G
  • NM_001407899.1:c.1954A>G
  • NM_001407900.1:c.1957A>G
  • NM_001407902.1:c.1957A>G
  • NM_001407904.1:c.1957A>G
  • NM_001407906.1:c.1957A>G
  • NM_001407907.1:c.1957A>G
  • NM_001407908.1:c.1957A>G
  • NM_001407909.1:c.1957A>G
  • NM_001407910.1:c.1957A>G
  • NM_001407915.1:c.1954A>G
  • NM_001407916.1:c.1954A>G
  • NM_001407917.1:c.1954A>G
  • NM_001407918.1:c.1954A>G
  • NM_001407919.1:c.2044A>G
  • NM_001407920.1:c.1903A>G
  • NM_001407921.1:c.1903A>G
  • NM_001407922.1:c.1903A>G
  • NM_001407923.1:c.1903A>G
  • NM_001407924.1:c.1903A>G
  • NM_001407925.1:c.1903A>G
  • NM_001407926.1:c.1903A>G
  • NM_001407927.1:c.1903A>G
  • NM_001407928.1:c.1903A>G
  • NM_001407929.1:c.1903A>G
  • NM_001407930.1:c.1900A>G
  • NM_001407931.1:c.1900A>G
  • NM_001407932.1:c.1900A>G
  • NM_001407933.1:c.1903A>G
  • NM_001407934.1:c.1900A>G
  • NM_001407935.1:c.1903A>G
  • NM_001407936.1:c.1900A>G
  • NM_001407937.1:c.2044A>G
  • NM_001407938.1:c.2044A>G
  • NM_001407939.1:c.2044A>G
  • NM_001407940.1:c.2041A>G
  • NM_001407941.1:c.2041A>G
  • NM_001407942.1:c.2026A>G
  • NM_001407943.1:c.2023A>G
  • NM_001407944.1:c.2026A>G
  • NM_001407945.1:c.2026A>G
  • NM_001407946.1:c.1834A>G
  • NM_001407947.1:c.1834A>G
  • NM_001407948.1:c.1834A>G
  • NM_001407949.1:c.1834A>G
  • NM_001407950.1:c.1834A>G
  • NM_001407951.1:c.1834A>G
  • NM_001407952.1:c.1834A>G
  • NM_001407953.1:c.1834A>G
  • NM_001407954.1:c.1831A>G
  • NM_001407955.1:c.1831A>G
  • NM_001407956.1:c.1831A>G
  • NM_001407957.1:c.1834A>G
  • NM_001407958.1:c.1831A>G
  • NM_001407959.1:c.1786A>G
  • NM_001407960.1:c.1786A>G
  • NM_001407962.1:c.1783A>G
  • NM_001407963.1:c.1786A>G
  • NM_001407964.1:c.2023A>G
  • NM_001407965.1:c.1663A>G
  • NM_001407966.1:c.1279A>G
  • NM_001407967.1:c.1279A>G
  • NM_001407968.1:c.788-1225A>G
  • NM_001407969.1:c.788-1225A>G
  • NM_001407970.1:c.787+1380A>G
  • NM_001407971.1:c.787+1380A>G
  • NM_001407972.1:c.784+1380A>G
  • NM_001407973.1:c.787+1380A>G
  • NM_001407974.1:c.787+1380A>G
  • NM_001407975.1:c.787+1380A>G
  • NM_001407976.1:c.787+1380A>G
  • NM_001407977.1:c.787+1380A>G
  • NM_001407978.1:c.787+1380A>G
  • NM_001407979.1:c.787+1380A>G
  • NM_001407980.1:c.787+1380A>G
  • NM_001407981.1:c.787+1380A>G
  • NM_001407982.1:c.787+1380A>G
  • NM_001407983.1:c.787+1380A>G
  • NM_001407984.1:c.784+1380A>G
  • NM_001407985.1:c.784+1380A>G
  • NM_001407986.1:c.784+1380A>G
  • NM_001407990.1:c.787+1380A>G
  • NM_001407991.1:c.784+1380A>G
  • NM_001407992.1:c.784+1380A>G
  • NM_001407993.1:c.787+1380A>G
  • NM_001408392.1:c.784+1380A>G
  • NM_001408396.1:c.784+1380A>G
  • NM_001408397.1:c.784+1380A>G
  • NM_001408398.1:c.784+1380A>G
  • NM_001408399.1:c.784+1380A>G
  • NM_001408400.1:c.784+1380A>G
  • NM_001408401.1:c.784+1380A>G
  • NM_001408402.1:c.784+1380A>G
  • NM_001408403.1:c.787+1380A>G
  • NM_001408404.1:c.787+1380A>G
  • NM_001408406.1:c.790+1377A>G
  • NM_001408407.1:c.784+1380A>G
  • NM_001408408.1:c.778+1380A>G
  • NM_001408409.1:c.709+1380A>G
  • NM_001408410.1:c.646+1380A>G
  • NM_001408411.1:c.709+1380A>G
  • NM_001408412.1:c.709+1380A>G
  • NM_001408413.1:c.706+1380A>G
  • NM_001408414.1:c.709+1380A>G
  • NM_001408415.1:c.709+1380A>G
  • NM_001408416.1:c.706+1380A>G
  • NM_001408418.1:c.671-2332A>G
  • NM_001408419.1:c.671-2332A>G
  • NM_001408420.1:c.671-2332A>G
  • NM_001408421.1:c.668-2332A>G
  • NM_001408422.1:c.671-2332A>G
  • NM_001408423.1:c.671-2332A>G
  • NM_001408424.1:c.668-2332A>G
  • NM_001408425.1:c.664+1380A>G
  • NM_001408426.1:c.664+1380A>G
  • NM_001408427.1:c.664+1380A>G
  • NM_001408428.1:c.664+1380A>G
  • NM_001408429.1:c.664+1380A>G
  • NM_001408430.1:c.664+1380A>G
  • NM_001408431.1:c.668-2332A>G
  • NM_001408432.1:c.661+1380A>G
  • NM_001408433.1:c.661+1380A>G
  • NM_001408434.1:c.661+1380A>G
  • NM_001408435.1:c.661+1380A>G
  • NM_001408436.1:c.664+1380A>G
  • NM_001408437.1:c.664+1380A>G
  • NM_001408438.1:c.664+1380A>G
  • NM_001408439.1:c.664+1380A>G
  • NM_001408440.1:c.664+1380A>G
  • NM_001408441.1:c.664+1380A>G
  • NM_001408442.1:c.664+1380A>G
  • NM_001408443.1:c.664+1380A>G
  • NM_001408444.1:c.664+1380A>G
  • NM_001408445.1:c.661+1380A>G
  • NM_001408446.1:c.661+1380A>G
  • NM_001408447.1:c.661+1380A>G
  • NM_001408448.1:c.661+1380A>G
  • NM_001408450.1:c.661+1380A>G
  • NM_001408451.1:c.652+1380A>G
  • NM_001408452.1:c.646+1380A>G
  • NM_001408453.1:c.646+1380A>G
  • NM_001408454.1:c.646+1380A>G
  • NM_001408455.1:c.646+1380A>G
  • NM_001408456.1:c.646+1380A>G
  • NM_001408457.1:c.646+1380A>G
  • NM_001408458.1:c.646+1380A>G
  • NM_001408459.1:c.646+1380A>G
  • NM_001408460.1:c.646+1380A>G
  • NM_001408461.1:c.646+1380A>G
  • NM_001408462.1:c.643+1380A>G
  • NM_001408463.1:c.643+1380A>G
  • NM_001408464.1:c.643+1380A>G
  • NM_001408465.1:c.643+1380A>G
  • NM_001408466.1:c.646+1380A>G
  • NM_001408467.1:c.646+1380A>G
  • NM_001408468.1:c.643+1380A>G
  • NM_001408469.1:c.646+1380A>G
  • NM_001408470.1:c.643+1380A>G
  • NM_001408472.1:c.787+1380A>G
  • NM_001408473.1:c.784+1380A>G
  • NM_001408474.1:c.586+1380A>G
  • NM_001408475.1:c.583+1380A>G
  • NM_001408476.1:c.586+1380A>G
  • NM_001408478.1:c.577+1380A>G
  • NM_001408479.1:c.577+1380A>G
  • NM_001408480.1:c.577+1380A>G
  • NM_001408481.1:c.577+1380A>G
  • NM_001408482.1:c.577+1380A>G
  • NM_001408483.1:c.577+1380A>G
  • NM_001408484.1:c.577+1380A>G
  • NM_001408485.1:c.577+1380A>G
  • NM_001408489.1:c.577+1380A>G
  • NM_001408490.1:c.574+1380A>G
  • NM_001408491.1:c.574+1380A>G
  • NM_001408492.1:c.577+1380A>G
  • NM_001408493.1:c.574+1380A>G
  • NM_001408494.1:c.548-2332A>G
  • NM_001408495.1:c.545-2332A>G
  • NM_001408496.1:c.523+1380A>G
  • NM_001408497.1:c.523+1380A>G
  • NM_001408498.1:c.523+1380A>G
  • NM_001408499.1:c.523+1380A>G
  • NM_001408500.1:c.523+1380A>G
  • NM_001408501.1:c.523+1380A>G
  • NM_001408502.1:c.454+1380A>G
  • NM_001408503.1:c.520+1380A>G
  • NM_001408504.1:c.520+1380A>G
  • NM_001408505.1:c.520+1380A>G
  • NM_001408506.1:c.461-2332A>G
  • NM_001408507.1:c.461-2332A>G
  • NM_001408508.1:c.451+1380A>G
  • NM_001408509.1:c.451+1380A>G
  • NM_001408510.1:c.406+1380A>G
  • NM_001408511.1:c.404-2332A>G
  • NM_001408512.1:c.283+1380A>G
  • NM_001408513.1:c.577+1380A>G
  • NM_001408514.1:c.577+1380A>G
  • NM_007294.4:c.2167A>GMANE SELECT
  • NM_007297.4:c.2026A>G
  • NM_007298.4:c.787+1380A>G
  • NM_007299.4:c.787+1380A>G
  • NM_007300.4:c.2167A>G
  • NP_001394500.1:p.Asn652Asp
  • NP_001394510.1:p.Asn723Asp
  • NP_001394511.1:p.Asn723Asp
  • NP_001394512.1:p.Asn723Asp
  • NP_001394514.1:p.Asn723Asp
  • NP_001394516.1:p.Asn722Asp
  • NP_001394519.1:p.Asn722Asp
  • NP_001394520.1:p.Asn722Asp
  • NP_001394522.1:p.Asn723Asp
  • NP_001394523.1:p.Asn723Asp
  • NP_001394525.1:p.Asn723Asp
  • NP_001394526.1:p.Asn723Asp
  • NP_001394527.1:p.Asn723Asp
  • NP_001394531.1:p.Asn723Asp
  • NP_001394532.1:p.Asn723Asp
  • NP_001394534.1:p.Asn723Asp
  • NP_001394539.1:p.Asn722Asp
  • NP_001394540.1:p.Asn722Asp
  • NP_001394541.1:p.Asn722Asp
  • NP_001394542.1:p.Asn722Asp
  • NP_001394543.1:p.Asn722Asp
  • NP_001394544.1:p.Asn722Asp
  • NP_001394545.1:p.Asn723Asp
  • NP_001394546.1:p.Asn723Asp
  • NP_001394547.1:p.Asn723Asp
  • NP_001394548.1:p.Asn723Asp
  • NP_001394549.1:p.Asn723Asp
  • NP_001394550.1:p.Asn723Asp
  • NP_001394551.1:p.Asn723Asp
  • NP_001394552.1:p.Asn723Asp
  • NP_001394553.1:p.Asn723Asp
  • NP_001394554.1:p.Asn723Asp
  • NP_001394555.1:p.Asn723Asp
  • NP_001394556.1:p.Asn722Asp
  • NP_001394557.1:p.Asn722Asp
  • NP_001394558.1:p.Asn722Asp
  • NP_001394559.1:p.Asn722Asp
  • NP_001394560.1:p.Asn722Asp
  • NP_001394561.1:p.Asn722Asp
  • NP_001394562.1:p.Asn722Asp
  • NP_001394563.1:p.Asn722Asp
  • NP_001394564.1:p.Asn722Asp
  • NP_001394565.1:p.Asn722Asp
  • NP_001394566.1:p.Asn722Asp
  • NP_001394567.1:p.Asn722Asp
  • NP_001394568.1:p.Asn723Asp
  • NP_001394569.1:p.Asn723Asp
  • NP_001394570.1:p.Asn723Asp
  • NP_001394571.1:p.Asn723Asp
  • NP_001394573.1:p.Asn722Asp
  • NP_001394574.1:p.Asn722Asp
  • NP_001394575.1:p.Asn720Asp
  • NP_001394576.1:p.Asn720Asp
  • NP_001394577.1:p.Asn682Asp
  • NP_001394578.1:p.Asn681Asp
  • NP_001394581.1:p.Asn723Asp
  • NP_001394582.1:p.Asn697Asp
  • NP_001394583.1:p.Asn697Asp
  • NP_001394584.1:p.Asn697Asp
  • NP_001394585.1:p.Asn697Asp
  • NP_001394586.1:p.Asn697Asp
  • NP_001394587.1:p.Asn697Asp
  • NP_001394588.1:p.Asn696Asp
  • NP_001394589.1:p.Asn696Asp
  • NP_001394590.1:p.Asn696Asp
  • NP_001394591.1:p.Asn696Asp
  • NP_001394592.1:p.Asn697Asp
  • NP_001394593.1:p.Asn682Asp
  • NP_001394594.1:p.Asn682Asp
  • NP_001394595.1:p.Asn682Asp
  • NP_001394596.1:p.Asn682Asp
  • NP_001394597.1:p.Asn682Asp
  • NP_001394598.1:p.Asn682Asp
  • NP_001394599.1:p.Asn681Asp
  • NP_001394600.1:p.Asn681Asp
  • NP_001394601.1:p.Asn681Asp
  • NP_001394602.1:p.Asn681Asp
  • NP_001394603.1:p.Asn682Asp
  • NP_001394604.1:p.Asn682Asp
  • NP_001394605.1:p.Asn682Asp
  • NP_001394606.1:p.Asn682Asp
  • NP_001394607.1:p.Asn682Asp
  • NP_001394608.1:p.Asn682Asp
  • NP_001394609.1:p.Asn682Asp
  • NP_001394610.1:p.Asn682Asp
  • NP_001394611.1:p.Asn682Asp
  • NP_001394612.1:p.Asn682Asp
  • NP_001394613.1:p.Asn723Asp
  • NP_001394614.1:p.Asn681Asp
  • NP_001394615.1:p.Asn681Asp
  • NP_001394616.1:p.Asn681Asp
  • NP_001394617.1:p.Asn681Asp
  • NP_001394618.1:p.Asn681Asp
  • NP_001394619.1:p.Asn681Asp
  • NP_001394620.1:p.Asn681Asp
  • NP_001394621.1:p.Asn676Asp
  • NP_001394623.1:p.Asn676Asp
  • NP_001394624.1:p.Asn676Asp
  • NP_001394625.1:p.Asn676Asp
  • NP_001394626.1:p.Asn676Asp
  • NP_001394627.1:p.Asn676Asp
  • NP_001394653.1:p.Asn676Asp
  • NP_001394654.1:p.Asn676Asp
  • NP_001394655.1:p.Asn676Asp
  • NP_001394656.1:p.Asn676Asp
  • NP_001394657.1:p.Asn676Asp
  • NP_001394658.1:p.Asn676Asp
  • NP_001394659.1:p.Asn676Asp
  • NP_001394660.1:p.Asn676Asp
  • NP_001394661.1:p.Asn676Asp
  • NP_001394662.1:p.Asn676Asp
  • NP_001394663.1:p.Asn676Asp
  • NP_001394664.1:p.Asn676Asp
  • NP_001394665.1:p.Asn676Asp
  • NP_001394666.1:p.Asn676Asp
  • NP_001394667.1:p.Asn676Asp
  • NP_001394668.1:p.Asn676Asp
  • NP_001394669.1:p.Asn675Asp
  • NP_001394670.1:p.Asn675Asp
  • NP_001394671.1:p.Asn675Asp
  • NP_001394672.1:p.Asn675Asp
  • NP_001394673.1:p.Asn675Asp
  • NP_001394674.1:p.Asn675Asp
  • NP_001394675.1:p.Asn675Asp
  • NP_001394676.1:p.Asn675Asp
  • NP_001394677.1:p.Asn675Asp
  • NP_001394678.1:p.Asn675Asp
  • NP_001394679.1:p.Asn676Asp
  • NP_001394680.1:p.Asn676Asp
  • NP_001394681.1:p.Asn676Asp
  • NP_001394767.1:p.Asn675Asp
  • NP_001394768.1:p.Asn675Asp
  • NP_001394770.1:p.Asn675Asp
  • NP_001394771.1:p.Asn675Asp
  • NP_001394772.1:p.Asn675Asp
  • NP_001394773.1:p.Asn675Asp
  • NP_001394774.1:p.Asn675Asp
  • NP_001394775.1:p.Asn675Asp
  • NP_001394776.1:p.Asn675Asp
  • NP_001394777.1:p.Asn675Asp
  • NP_001394778.1:p.Asn675Asp
  • NP_001394779.1:p.Asn676Asp
  • NP_001394780.1:p.Asn676Asp
  • NP_001394781.1:p.Asn676Asp
  • NP_001394782.1:p.Asn652Asp
  • NP_001394783.1:p.Asn723Asp
  • NP_001394787.1:p.Asn723Asp
  • NP_001394788.1:p.Asn723Asp
  • NP_001394789.1:p.Asn722Asp
  • NP_001394790.1:p.Asn722Asp
  • NP_001394791.1:p.Asn656Asp
  • NP_001394792.1:p.Asn682Asp
  • NP_001394803.1:p.Asn655Asp
  • NP_001394804.1:p.Asn655Asp
  • NP_001394808.1:p.Asn653Asp
  • NP_001394810.1:p.Asn653Asp
  • NP_001394811.1:p.Asn653Asp
  • NP_001394813.1:p.Asn653Asp
  • NP_001394814.1:p.Asn653Asp
  • NP_001394815.1:p.Asn653Asp
  • NP_001394816.1:p.Asn653Asp
  • NP_001394818.1:p.Asn653Asp
  • NP_001394823.1:p.Asn652Asp
  • NP_001394824.1:p.Asn652Asp
  • NP_001394825.1:p.Asn652Asp
  • NP_001394826.1:p.Asn652Asp
  • NP_001394827.1:p.Asn652Asp
  • NP_001394828.1:p.Asn652Asp
  • NP_001394829.1:p.Asn653Asp
  • NP_001394831.1:p.Asn653Asp
  • NP_001394833.1:p.Asn653Asp
  • NP_001394835.1:p.Asn653Asp
  • NP_001394836.1:p.Asn653Asp
  • NP_001394837.1:p.Asn653Asp
  • NP_001394838.1:p.Asn653Asp
  • NP_001394839.1:p.Asn653Asp
  • NP_001394844.1:p.Asn652Asp
  • NP_001394845.1:p.Asn652Asp
  • NP_001394846.1:p.Asn652Asp
  • NP_001394847.1:p.Asn652Asp
  • NP_001394848.1:p.Asn682Asp
  • NP_001394849.1:p.Asn635Asp
  • NP_001394850.1:p.Asn635Asp
  • NP_001394851.1:p.Asn635Asp
  • NP_001394852.1:p.Asn635Asp
  • NP_001394853.1:p.Asn635Asp
  • NP_001394854.1:p.Asn635Asp
  • NP_001394855.1:p.Asn635Asp
  • NP_001394856.1:p.Asn635Asp
  • NP_001394857.1:p.Asn635Asp
  • NP_001394858.1:p.Asn635Asp
  • NP_001394859.1:p.Asn634Asp
  • NP_001394860.1:p.Asn634Asp
  • NP_001394861.1:p.Asn634Asp
  • NP_001394862.1:p.Asn635Asp
  • NP_001394863.1:p.Asn634Asp
  • NP_001394864.1:p.Asn635Asp
  • NP_001394865.1:p.Asn634Asp
  • NP_001394866.1:p.Asn682Asp
  • NP_001394867.1:p.Asn682Asp
  • NP_001394868.1:p.Asn682Asp
  • NP_001394869.1:p.Asn681Asp
  • NP_001394870.1:p.Asn681Asp
  • NP_001394871.1:p.Asn676Asp
  • NP_001394872.1:p.Asn675Asp
  • NP_001394873.1:p.Asn676Asp
  • NP_001394874.1:p.Asn676Asp
  • NP_001394875.1:p.Asn612Asp
  • NP_001394876.1:p.Asn612Asp
  • NP_001394877.1:p.Asn612Asp
  • NP_001394878.1:p.Asn612Asp
  • NP_001394879.1:p.Asn612Asp
  • NP_001394880.1:p.Asn612Asp
  • NP_001394881.1:p.Asn612Asp
  • NP_001394882.1:p.Asn612Asp
  • NP_001394883.1:p.Asn611Asp
  • NP_001394884.1:p.Asn611Asp
  • NP_001394885.1:p.Asn611Asp
  • NP_001394886.1:p.Asn612Asp
  • NP_001394887.1:p.Asn611Asp
  • NP_001394888.1:p.Asn596Asp
  • NP_001394889.1:p.Asn596Asp
  • NP_001394891.1:p.Asn595Asp
  • NP_001394892.1:p.Asn596Asp
  • NP_001394893.1:p.Asn675Asp
  • NP_001394894.1:p.Asn555Asp
  • NP_001394895.1:p.Asn427Asp
  • NP_001394896.1:p.Asn427Asp
  • NP_009225.1:p.Asn723Asp
  • NP_009225.1:p.Asn723Asp
  • NP_009228.2:p.Asn676Asp
  • NP_009231.2:p.Asn723Asp
  • LRG_292t1:c.2167A>G
  • LRG_292:g.124620A>G
  • LRG_292p1:p.Asn723Asp
  • NC_000017.10:g.41245381T>C
  • NM_007294.2:c.2167A>G
  • NM_007294.3:c.2167A>G
  • NM_007294.4:c.2167A>G
  • NM_007300.3:c.2167A>G
  • NR_027676.1:n.2303A>G
  • P38398:p.Asn723Asp
  • U14680.1:n.2286A>G
  • p.N723D
Nucleotide change:
2286A>G
Protein change:
N427D
Links:
BRCA1-HCI: BRCA1_00068; UniProtKB: P38398#VAR_020110; dbSNP: rs4986845
NCBI 1000 Genomes Browser:
rs4986845
Molecular consequence:
  • NM_001407968.1:c.788-1225A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-1225A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1377A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2332A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2332A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2332A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2332A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2332A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2332A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2332A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2332A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2332A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2332A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2332A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2332A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2332A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1380A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2086A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2089A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2164A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1966A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1963A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1957A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.1900A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.1900A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.1900A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.1900A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.1903A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.1900A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2044A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.1834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.1834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.1834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.1834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.1834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.1834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.1834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.1834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.1831A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.1831A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.1831A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.1834A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.1831A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.1783A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.1786A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2023A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.1663A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.1279A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.1279A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2026A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2167A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant tumor of prostate
Synonyms:
Prostate cancer
Identifiers:
MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; OMIM: 176807; Human Phenotype Ontology: HP:0012125

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000190097CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation
criteria provided, single submitter

(Amendola et al. (Genome Res. 2015))
Likely benign
(Jun 1, 2014)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, et al.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

PubMed [citation]
PMID:
25637381
PMCID:
PMC4352885

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190097.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024