U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.792T>G (p.Ser264Arg) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 30, 2021
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:
RCV001853031.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.792T>G (p.Ser264Arg)]

NM_007294.4(BRCA1):c.792T>G (p.Ser264Arg)

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.792T>G (p.Ser264Arg)
HGVS:
  • NC_000017.11:g.43094739A>C
  • NG_005905.2:g.123245T>G
  • NM_001407571.1:c.579T>G
  • NM_001407581.1:c.792T>G
  • NM_001407582.1:c.792T>G
  • NM_001407583.1:c.792T>G
  • NM_001407585.1:c.792T>G
  • NM_001407587.1:c.789T>G
  • NM_001407590.1:c.789T>G
  • NM_001407591.1:c.789T>G
  • NM_001407593.1:c.792T>G
  • NM_001407594.1:c.792T>G
  • NM_001407596.1:c.792T>G
  • NM_001407597.1:c.792T>G
  • NM_001407598.1:c.792T>G
  • NM_001407602.1:c.792T>G
  • NM_001407603.1:c.792T>G
  • NM_001407605.1:c.792T>G
  • NM_001407610.1:c.789T>G
  • NM_001407611.1:c.789T>G
  • NM_001407612.1:c.789T>G
  • NM_001407613.1:c.789T>G
  • NM_001407614.1:c.789T>G
  • NM_001407615.1:c.789T>G
  • NM_001407616.1:c.792T>G
  • NM_001407617.1:c.792T>G
  • NM_001407618.1:c.792T>G
  • NM_001407619.1:c.792T>G
  • NM_001407620.1:c.792T>G
  • NM_001407621.1:c.792T>G
  • NM_001407622.1:c.792T>G
  • NM_001407623.1:c.792T>G
  • NM_001407624.1:c.792T>G
  • NM_001407625.1:c.792T>G
  • NM_001407626.1:c.792T>G
  • NM_001407627.1:c.789T>G
  • NM_001407628.1:c.789T>G
  • NM_001407629.1:c.789T>G
  • NM_001407630.1:c.789T>G
  • NM_001407631.1:c.789T>G
  • NM_001407632.1:c.789T>G
  • NM_001407633.1:c.789T>G
  • NM_001407634.1:c.789T>G
  • NM_001407635.1:c.789T>G
  • NM_001407636.1:c.789T>G
  • NM_001407637.1:c.789T>G
  • NM_001407638.1:c.789T>G
  • NM_001407639.1:c.792T>G
  • NM_001407640.1:c.792T>G
  • NM_001407641.1:c.792T>G
  • NM_001407642.1:c.792T>G
  • NM_001407644.1:c.789T>G
  • NM_001407645.1:c.789T>G
  • NM_001407646.1:c.783T>G
  • NM_001407647.1:c.783T>G
  • NM_001407648.1:c.669T>G
  • NM_001407649.1:c.666T>G
  • NM_001407652.1:c.792T>G
  • NM_001407653.1:c.714T>G
  • NM_001407654.1:c.714T>G
  • NM_001407655.1:c.714T>G
  • NM_001407656.1:c.714T>G
  • NM_001407657.1:c.714T>G
  • NM_001407658.1:c.714T>G
  • NM_001407659.1:c.711T>G
  • NM_001407660.1:c.711T>G
  • NM_001407661.1:c.711T>G
  • NM_001407662.1:c.711T>G
  • NM_001407663.1:c.714T>G
  • NM_001407664.1:c.669T>G
  • NM_001407665.1:c.669T>G
  • NM_001407666.1:c.669T>G
  • NM_001407667.1:c.669T>G
  • NM_001407668.1:c.669T>G
  • NM_001407669.1:c.669T>G
  • NM_001407670.1:c.666T>G
  • NM_001407671.1:c.666T>G
  • NM_001407672.1:c.666T>G
  • NM_001407673.1:c.666T>G
  • NM_001407674.1:c.669T>G
  • NM_001407675.1:c.669T>G
  • NM_001407676.1:c.669T>G
  • NM_001407677.1:c.669T>G
  • NM_001407678.1:c.669T>G
  • NM_001407679.1:c.669T>G
  • NM_001407680.1:c.669T>G
  • NM_001407681.1:c.669T>G
  • NM_001407682.1:c.669T>G
  • NM_001407683.1:c.669T>G
  • NM_001407684.1:c.792T>G
  • NM_001407685.1:c.666T>G
  • NM_001407686.1:c.666T>G
  • NM_001407687.1:c.666T>G
  • NM_001407688.1:c.666T>G
  • NM_001407689.1:c.666T>G
  • NM_001407690.1:c.666T>G
  • NM_001407691.1:c.666T>G
  • NM_001407692.1:c.651T>G
  • NM_001407694.1:c.651T>G
  • NM_001407695.1:c.651T>G
  • NM_001407696.1:c.651T>G
  • NM_001407697.1:c.651T>G
  • NM_001407698.1:c.651T>G
  • NM_001407724.1:c.651T>G
  • NM_001407725.1:c.651T>G
  • NM_001407726.1:c.651T>G
  • NM_001407727.1:c.651T>G
  • NM_001407728.1:c.651T>G
  • NM_001407729.1:c.651T>G
  • NM_001407730.1:c.651T>G
  • NM_001407731.1:c.651T>G
  • NM_001407732.1:c.651T>G
  • NM_001407733.1:c.651T>G
  • NM_001407734.1:c.651T>G
  • NM_001407735.1:c.651T>G
  • NM_001407736.1:c.651T>G
  • NM_001407737.1:c.651T>G
  • NM_001407738.1:c.651T>G
  • NM_001407739.1:c.651T>G
  • NM_001407740.1:c.648T>G
  • NM_001407741.1:c.648T>G
  • NM_001407742.1:c.648T>G
  • NM_001407743.1:c.648T>G
  • NM_001407744.1:c.648T>G
  • NM_001407745.1:c.648T>G
  • NM_001407746.1:c.648T>G
  • NM_001407747.1:c.648T>G
  • NM_001407748.1:c.648T>G
  • NM_001407749.1:c.648T>G
  • NM_001407750.1:c.651T>G
  • NM_001407751.1:c.651T>G
  • NM_001407752.1:c.651T>G
  • NM_001407838.1:c.648T>G
  • NM_001407839.1:c.648T>G
  • NM_001407841.1:c.648T>G
  • NM_001407842.1:c.648T>G
  • NM_001407843.1:c.648T>G
  • NM_001407844.1:c.648T>G
  • NM_001407845.1:c.648T>G
  • NM_001407846.1:c.648T>G
  • NM_001407847.1:c.648T>G
  • NM_001407848.1:c.648T>G
  • NM_001407849.1:c.648T>G
  • NM_001407850.1:c.651T>G
  • NM_001407851.1:c.651T>G
  • NM_001407852.1:c.651T>G
  • NM_001407853.1:c.579T>G
  • NM_001407854.1:c.792T>G
  • NM_001407858.1:c.792T>G
  • NM_001407859.1:c.792T>G
  • NM_001407860.1:c.789T>G
  • NM_001407861.1:c.789T>G
  • NM_001407862.1:c.591T>G
  • NM_001407863.1:c.669T>G
  • NM_001407874.1:c.588T>G
  • NM_001407875.1:c.588T>G
  • NM_001407879.1:c.582T>G
  • NM_001407881.1:c.582T>G
  • NM_001407882.1:c.582T>G
  • NM_001407884.1:c.582T>G
  • NM_001407885.1:c.582T>G
  • NM_001407886.1:c.582T>G
  • NM_001407887.1:c.582T>G
  • NM_001407889.1:c.582T>G
  • NM_001407894.1:c.579T>G
  • NM_001407895.1:c.579T>G
  • NM_001407896.1:c.579T>G
  • NM_001407897.1:c.579T>G
  • NM_001407898.1:c.579T>G
  • NM_001407899.1:c.579T>G
  • NM_001407900.1:c.582T>G
  • NM_001407902.1:c.582T>G
  • NM_001407904.1:c.582T>G
  • NM_001407906.1:c.582T>G
  • NM_001407907.1:c.582T>G
  • NM_001407908.1:c.582T>G
  • NM_001407909.1:c.582T>G
  • NM_001407910.1:c.582T>G
  • NM_001407915.1:c.579T>G
  • NM_001407916.1:c.579T>G
  • NM_001407917.1:c.579T>G
  • NM_001407918.1:c.579T>G
  • NM_001407919.1:c.669T>G
  • NM_001407920.1:c.528T>G
  • NM_001407921.1:c.528T>G
  • NM_001407922.1:c.528T>G
  • NM_001407923.1:c.528T>G
  • NM_001407924.1:c.528T>G
  • NM_001407925.1:c.528T>G
  • NM_001407926.1:c.528T>G
  • NM_001407927.1:c.528T>G
  • NM_001407928.1:c.528T>G
  • NM_001407929.1:c.528T>G
  • NM_001407930.1:c.525T>G
  • NM_001407931.1:c.525T>G
  • NM_001407932.1:c.525T>G
  • NM_001407933.1:c.528T>G
  • NM_001407934.1:c.525T>G
  • NM_001407935.1:c.528T>G
  • NM_001407936.1:c.525T>G
  • NM_001407937.1:c.669T>G
  • NM_001407938.1:c.669T>G
  • NM_001407939.1:c.669T>G
  • NM_001407940.1:c.666T>G
  • NM_001407941.1:c.666T>G
  • NM_001407942.1:c.651T>G
  • NM_001407943.1:c.648T>G
  • NM_001407944.1:c.651T>G
  • NM_001407945.1:c.651T>G
  • NM_001407946.1:c.459T>G
  • NM_001407947.1:c.459T>G
  • NM_001407948.1:c.459T>G
  • NM_001407949.1:c.459T>G
  • NM_001407950.1:c.459T>G
  • NM_001407951.1:c.459T>G
  • NM_001407952.1:c.459T>G
  • NM_001407953.1:c.459T>G
  • NM_001407954.1:c.456T>G
  • NM_001407955.1:c.456T>G
  • NM_001407956.1:c.456T>G
  • NM_001407957.1:c.459T>G
  • NM_001407958.1:c.456T>G
  • NM_001407959.1:c.411T>G
  • NM_001407960.1:c.411T>G
  • NM_001407962.1:c.408T>G
  • NM_001407963.1:c.411T>G
  • NM_001407964.1:c.648T>G
  • NM_001407965.1:c.288T>G
  • NM_001407966.1:c.-97T>G
  • NM_001407967.1:c.-97T>G
  • NM_001407968.1:c.787+5T>G
  • NM_001407969.1:c.787+5T>G
  • NM_001407970.1:c.787+5T>G
  • NM_001407971.1:c.787+5T>G
  • NM_001407972.1:c.784+5T>G
  • NM_001407973.1:c.787+5T>G
  • NM_001407974.1:c.787+5T>G
  • NM_001407975.1:c.787+5T>G
  • NM_001407976.1:c.787+5T>G
  • NM_001407977.1:c.787+5T>G
  • NM_001407978.1:c.787+5T>G
  • NM_001407979.1:c.787+5T>G
  • NM_001407980.1:c.787+5T>G
  • NM_001407981.1:c.787+5T>G
  • NM_001407982.1:c.787+5T>G
  • NM_001407983.1:c.787+5T>G
  • NM_001407984.1:c.784+5T>G
  • NM_001407985.1:c.784+5T>G
  • NM_001407986.1:c.784+5T>G
  • NM_001407990.1:c.787+5T>G
  • NM_001407991.1:c.784+5T>G
  • NM_001407992.1:c.784+5T>G
  • NM_001407993.1:c.787+5T>G
  • NM_001408392.1:c.784+5T>G
  • NM_001408396.1:c.784+5T>G
  • NM_001408397.1:c.784+5T>G
  • NM_001408398.1:c.784+5T>G
  • NM_001408399.1:c.784+5T>G
  • NM_001408400.1:c.784+5T>G
  • NM_001408401.1:c.784+5T>G
  • NM_001408402.1:c.784+5T>G
  • NM_001408403.1:c.787+5T>G
  • NM_001408404.1:c.787+5T>G
  • NM_001408406.1:c.790+2T>G
  • NM_001408407.1:c.784+5T>G
  • NM_001408408.1:c.778+5T>G
  • NM_001408409.1:c.709+5T>G
  • NM_001408410.1:c.646+5T>G
  • NM_001408411.1:c.709+5T>G
  • NM_001408412.1:c.709+5T>G
  • NM_001408413.1:c.706+5T>G
  • NM_001408414.1:c.709+5T>G
  • NM_001408415.1:c.709+5T>G
  • NM_001408416.1:c.706+5T>G
  • NM_001408418.1:c.670+1107T>G
  • NM_001408419.1:c.670+1107T>G
  • NM_001408420.1:c.670+1107T>G
  • NM_001408421.1:c.667+1107T>G
  • NM_001408422.1:c.670+1107T>G
  • NM_001408423.1:c.670+1107T>G
  • NM_001408424.1:c.667+1107T>G
  • NM_001408425.1:c.664+5T>G
  • NM_001408426.1:c.664+5T>G
  • NM_001408427.1:c.664+5T>G
  • NM_001408428.1:c.664+5T>G
  • NM_001408429.1:c.664+5T>G
  • NM_001408430.1:c.664+5T>G
  • NM_001408431.1:c.667+1107T>G
  • NM_001408432.1:c.661+5T>G
  • NM_001408433.1:c.661+5T>G
  • NM_001408434.1:c.661+5T>G
  • NM_001408435.1:c.661+5T>G
  • NM_001408436.1:c.664+5T>G
  • NM_001408437.1:c.664+5T>G
  • NM_001408438.1:c.664+5T>G
  • NM_001408439.1:c.664+5T>G
  • NM_001408440.1:c.664+5T>G
  • NM_001408441.1:c.664+5T>G
  • NM_001408442.1:c.664+5T>G
  • NM_001408443.1:c.664+5T>G
  • NM_001408444.1:c.664+5T>G
  • NM_001408445.1:c.661+5T>G
  • NM_001408446.1:c.661+5T>G
  • NM_001408447.1:c.661+5T>G
  • NM_001408448.1:c.661+5T>G
  • NM_001408450.1:c.661+5T>G
  • NM_001408451.1:c.652+5T>G
  • NM_001408452.1:c.646+5T>G
  • NM_001408453.1:c.646+5T>G
  • NM_001408454.1:c.646+5T>G
  • NM_001408455.1:c.646+5T>G
  • NM_001408456.1:c.646+5T>G
  • NM_001408457.1:c.646+5T>G
  • NM_001408458.1:c.646+5T>G
  • NM_001408459.1:c.646+5T>G
  • NM_001408460.1:c.646+5T>G
  • NM_001408461.1:c.646+5T>G
  • NM_001408462.1:c.643+5T>G
  • NM_001408463.1:c.643+5T>G
  • NM_001408464.1:c.643+5T>G
  • NM_001408465.1:c.643+5T>G
  • NM_001408466.1:c.646+5T>G
  • NM_001408467.1:c.646+5T>G
  • NM_001408468.1:c.643+5T>G
  • NM_001408469.1:c.646+5T>G
  • NM_001408470.1:c.643+5T>G
  • NM_001408472.1:c.787+5T>G
  • NM_001408473.1:c.784+5T>G
  • NM_001408474.1:c.586+5T>G
  • NM_001408475.1:c.583+5T>G
  • NM_001408476.1:c.586+5T>G
  • NM_001408478.1:c.577+5T>G
  • NM_001408479.1:c.577+5T>G
  • NM_001408480.1:c.577+5T>G
  • NM_001408481.1:c.577+5T>G
  • NM_001408482.1:c.577+5T>G
  • NM_001408483.1:c.577+5T>G
  • NM_001408484.1:c.577+5T>G
  • NM_001408485.1:c.577+5T>G
  • NM_001408489.1:c.577+5T>G
  • NM_001408490.1:c.574+5T>G
  • NM_001408491.1:c.574+5T>G
  • NM_001408492.1:c.577+5T>G
  • NM_001408493.1:c.574+5T>G
  • NM_001408494.1:c.548-3707T>G
  • NM_001408495.1:c.545-3707T>G
  • NM_001408496.1:c.523+5T>G
  • NM_001408497.1:c.523+5T>G
  • NM_001408498.1:c.523+5T>G
  • NM_001408499.1:c.523+5T>G
  • NM_001408500.1:c.523+5T>G
  • NM_001408501.1:c.523+5T>G
  • NM_001408502.1:c.454+5T>G
  • NM_001408503.1:c.520+5T>G
  • NM_001408504.1:c.520+5T>G
  • NM_001408505.1:c.520+5T>G
  • NM_001408506.1:c.460+1107T>G
  • NM_001408507.1:c.460+1107T>G
  • NM_001408508.1:c.451+5T>G
  • NM_001408509.1:c.451+5T>G
  • NM_001408510.1:c.406+5T>G
  • NM_001408511.1:c.404-3707T>G
  • NM_001408512.1:c.283+5T>G
  • NM_001408513.1:c.577+5T>G
  • NM_001408514.1:c.577+5T>G
  • NM_007294.4:c.792T>GMANE SELECT
  • NM_007297.4:c.651T>G
  • NM_007298.4:c.787+5T>G
  • NM_007299.4:c.787+5T>G
  • NM_007300.4:c.792T>G
  • NP_001394500.1:p.Ser193Arg
  • NP_001394510.1:p.Ser264Arg
  • NP_001394511.1:p.Ser264Arg
  • NP_001394512.1:p.Ser264Arg
  • NP_001394514.1:p.Ser264Arg
  • NP_001394516.1:p.Ser263Arg
  • NP_001394519.1:p.Ser263Arg
  • NP_001394520.1:p.Ser263Arg
  • NP_001394522.1:p.Ser264Arg
  • NP_001394523.1:p.Ser264Arg
  • NP_001394525.1:p.Ser264Arg
  • NP_001394526.1:p.Ser264Arg
  • NP_001394527.1:p.Ser264Arg
  • NP_001394531.1:p.Ser264Arg
  • NP_001394532.1:p.Ser264Arg
  • NP_001394534.1:p.Ser264Arg
  • NP_001394539.1:p.Ser263Arg
  • NP_001394540.1:p.Ser263Arg
  • NP_001394541.1:p.Ser263Arg
  • NP_001394542.1:p.Ser263Arg
  • NP_001394543.1:p.Ser263Arg
  • NP_001394544.1:p.Ser263Arg
  • NP_001394545.1:p.Ser264Arg
  • NP_001394546.1:p.Ser264Arg
  • NP_001394547.1:p.Ser264Arg
  • NP_001394548.1:p.Ser264Arg
  • NP_001394549.1:p.Ser264Arg
  • NP_001394550.1:p.Ser264Arg
  • NP_001394551.1:p.Ser264Arg
  • NP_001394552.1:p.Ser264Arg
  • NP_001394553.1:p.Ser264Arg
  • NP_001394554.1:p.Ser264Arg
  • NP_001394555.1:p.Ser264Arg
  • NP_001394556.1:p.Ser263Arg
  • NP_001394557.1:p.Ser263Arg
  • NP_001394558.1:p.Ser263Arg
  • NP_001394559.1:p.Ser263Arg
  • NP_001394560.1:p.Ser263Arg
  • NP_001394561.1:p.Ser263Arg
  • NP_001394562.1:p.Ser263Arg
  • NP_001394563.1:p.Ser263Arg
  • NP_001394564.1:p.Ser263Arg
  • NP_001394565.1:p.Ser263Arg
  • NP_001394566.1:p.Ser263Arg
  • NP_001394567.1:p.Ser263Arg
  • NP_001394568.1:p.Ser264Arg
  • NP_001394569.1:p.Ser264Arg
  • NP_001394570.1:p.Ser264Arg
  • NP_001394571.1:p.Ser264Arg
  • NP_001394573.1:p.Ser263Arg
  • NP_001394574.1:p.Ser263Arg
  • NP_001394575.1:p.Ser261Arg
  • NP_001394576.1:p.Ser261Arg
  • NP_001394577.1:p.Ser223Arg
  • NP_001394578.1:p.Ser222Arg
  • NP_001394581.1:p.Ser264Arg
  • NP_001394582.1:p.Ser238Arg
  • NP_001394583.1:p.Ser238Arg
  • NP_001394584.1:p.Ser238Arg
  • NP_001394585.1:p.Ser238Arg
  • NP_001394586.1:p.Ser238Arg
  • NP_001394587.1:p.Ser238Arg
  • NP_001394588.1:p.Ser237Arg
  • NP_001394589.1:p.Ser237Arg
  • NP_001394590.1:p.Ser237Arg
  • NP_001394591.1:p.Ser237Arg
  • NP_001394592.1:p.Ser238Arg
  • NP_001394593.1:p.Ser223Arg
  • NP_001394594.1:p.Ser223Arg
  • NP_001394595.1:p.Ser223Arg
  • NP_001394596.1:p.Ser223Arg
  • NP_001394597.1:p.Ser223Arg
  • NP_001394598.1:p.Ser223Arg
  • NP_001394599.1:p.Ser222Arg
  • NP_001394600.1:p.Ser222Arg
  • NP_001394601.1:p.Ser222Arg
  • NP_001394602.1:p.Ser222Arg
  • NP_001394603.1:p.Ser223Arg
  • NP_001394604.1:p.Ser223Arg
  • NP_001394605.1:p.Ser223Arg
  • NP_001394606.1:p.Ser223Arg
  • NP_001394607.1:p.Ser223Arg
  • NP_001394608.1:p.Ser223Arg
  • NP_001394609.1:p.Ser223Arg
  • NP_001394610.1:p.Ser223Arg
  • NP_001394611.1:p.Ser223Arg
  • NP_001394612.1:p.Ser223Arg
  • NP_001394613.1:p.Ser264Arg
  • NP_001394614.1:p.Ser222Arg
  • NP_001394615.1:p.Ser222Arg
  • NP_001394616.1:p.Ser222Arg
  • NP_001394617.1:p.Ser222Arg
  • NP_001394618.1:p.Ser222Arg
  • NP_001394619.1:p.Ser222Arg
  • NP_001394620.1:p.Ser222Arg
  • NP_001394621.1:p.Ser217Arg
  • NP_001394623.1:p.Ser217Arg
  • NP_001394624.1:p.Ser217Arg
  • NP_001394625.1:p.Ser217Arg
  • NP_001394626.1:p.Ser217Arg
  • NP_001394627.1:p.Ser217Arg
  • NP_001394653.1:p.Ser217Arg
  • NP_001394654.1:p.Ser217Arg
  • NP_001394655.1:p.Ser217Arg
  • NP_001394656.1:p.Ser217Arg
  • NP_001394657.1:p.Ser217Arg
  • NP_001394658.1:p.Ser217Arg
  • NP_001394659.1:p.Ser217Arg
  • NP_001394660.1:p.Ser217Arg
  • NP_001394661.1:p.Ser217Arg
  • NP_001394662.1:p.Ser217Arg
  • NP_001394663.1:p.Ser217Arg
  • NP_001394664.1:p.Ser217Arg
  • NP_001394665.1:p.Ser217Arg
  • NP_001394666.1:p.Ser217Arg
  • NP_001394667.1:p.Ser217Arg
  • NP_001394668.1:p.Ser217Arg
  • NP_001394669.1:p.Ser216Arg
  • NP_001394670.1:p.Ser216Arg
  • NP_001394671.1:p.Ser216Arg
  • NP_001394672.1:p.Ser216Arg
  • NP_001394673.1:p.Ser216Arg
  • NP_001394674.1:p.Ser216Arg
  • NP_001394675.1:p.Ser216Arg
  • NP_001394676.1:p.Ser216Arg
  • NP_001394677.1:p.Ser216Arg
  • NP_001394678.1:p.Ser216Arg
  • NP_001394679.1:p.Ser217Arg
  • NP_001394680.1:p.Ser217Arg
  • NP_001394681.1:p.Ser217Arg
  • NP_001394767.1:p.Ser216Arg
  • NP_001394768.1:p.Ser216Arg
  • NP_001394770.1:p.Ser216Arg
  • NP_001394771.1:p.Ser216Arg
  • NP_001394772.1:p.Ser216Arg
  • NP_001394773.1:p.Ser216Arg
  • NP_001394774.1:p.Ser216Arg
  • NP_001394775.1:p.Ser216Arg
  • NP_001394776.1:p.Ser216Arg
  • NP_001394777.1:p.Ser216Arg
  • NP_001394778.1:p.Ser216Arg
  • NP_001394779.1:p.Ser217Arg
  • NP_001394780.1:p.Ser217Arg
  • NP_001394781.1:p.Ser217Arg
  • NP_001394782.1:p.Ser193Arg
  • NP_001394783.1:p.Ser264Arg
  • NP_001394787.1:p.Ser264Arg
  • NP_001394788.1:p.Ser264Arg
  • NP_001394789.1:p.Ser263Arg
  • NP_001394790.1:p.Ser263Arg
  • NP_001394791.1:p.Ser197Arg
  • NP_001394792.1:p.Ser223Arg
  • NP_001394803.1:p.Ser196Arg
  • NP_001394804.1:p.Ser196Arg
  • NP_001394808.1:p.Ser194Arg
  • NP_001394810.1:p.Ser194Arg
  • NP_001394811.1:p.Ser194Arg
  • NP_001394813.1:p.Ser194Arg
  • NP_001394814.1:p.Ser194Arg
  • NP_001394815.1:p.Ser194Arg
  • NP_001394816.1:p.Ser194Arg
  • NP_001394818.1:p.Ser194Arg
  • NP_001394823.1:p.Ser193Arg
  • NP_001394824.1:p.Ser193Arg
  • NP_001394825.1:p.Ser193Arg
  • NP_001394826.1:p.Ser193Arg
  • NP_001394827.1:p.Ser193Arg
  • NP_001394828.1:p.Ser193Arg
  • NP_001394829.1:p.Ser194Arg
  • NP_001394831.1:p.Ser194Arg
  • NP_001394833.1:p.Ser194Arg
  • NP_001394835.1:p.Ser194Arg
  • NP_001394836.1:p.Ser194Arg
  • NP_001394837.1:p.Ser194Arg
  • NP_001394838.1:p.Ser194Arg
  • NP_001394839.1:p.Ser194Arg
  • NP_001394844.1:p.Ser193Arg
  • NP_001394845.1:p.Ser193Arg
  • NP_001394846.1:p.Ser193Arg
  • NP_001394847.1:p.Ser193Arg
  • NP_001394848.1:p.Ser223Arg
  • NP_001394849.1:p.Ser176Arg
  • NP_001394850.1:p.Ser176Arg
  • NP_001394851.1:p.Ser176Arg
  • NP_001394852.1:p.Ser176Arg
  • NP_001394853.1:p.Ser176Arg
  • NP_001394854.1:p.Ser176Arg
  • NP_001394855.1:p.Ser176Arg
  • NP_001394856.1:p.Ser176Arg
  • NP_001394857.1:p.Ser176Arg
  • NP_001394858.1:p.Ser176Arg
  • NP_001394859.1:p.Ser175Arg
  • NP_001394860.1:p.Ser175Arg
  • NP_001394861.1:p.Ser175Arg
  • NP_001394862.1:p.Ser176Arg
  • NP_001394863.1:p.Ser175Arg
  • NP_001394864.1:p.Ser176Arg
  • NP_001394865.1:p.Ser175Arg
  • NP_001394866.1:p.Ser223Arg
  • NP_001394867.1:p.Ser223Arg
  • NP_001394868.1:p.Ser223Arg
  • NP_001394869.1:p.Ser222Arg
  • NP_001394870.1:p.Ser222Arg
  • NP_001394871.1:p.Ser217Arg
  • NP_001394872.1:p.Ser216Arg
  • NP_001394873.1:p.Ser217Arg
  • NP_001394874.1:p.Ser217Arg
  • NP_001394875.1:p.Ser153Arg
  • NP_001394876.1:p.Ser153Arg
  • NP_001394877.1:p.Ser153Arg
  • NP_001394878.1:p.Ser153Arg
  • NP_001394879.1:p.Ser153Arg
  • NP_001394880.1:p.Ser153Arg
  • NP_001394881.1:p.Ser153Arg
  • NP_001394882.1:p.Ser153Arg
  • NP_001394883.1:p.Ser152Arg
  • NP_001394884.1:p.Ser152Arg
  • NP_001394885.1:p.Ser152Arg
  • NP_001394886.1:p.Ser153Arg
  • NP_001394887.1:p.Ser152Arg
  • NP_001394888.1:p.Ser137Arg
  • NP_001394889.1:p.Ser137Arg
  • NP_001394891.1:p.Ser136Arg
  • NP_001394892.1:p.Ser137Arg
  • NP_001394893.1:p.Ser216Arg
  • NP_001394894.1:p.Ser96Arg
  • NP_009225.1:p.Ser264Arg
  • NP_009225.1:p.Ser264Arg
  • NP_009228.2:p.Ser217Arg
  • NP_009231.2:p.Ser264Arg
  • LRG_292t1:c.792T>G
  • LRG_292:g.123245T>G
  • LRG_292p1:p.Ser264Arg
  • NC_000017.10:g.41246756A>C
  • NM_007294.3:c.792T>G
  • NR_027676.2:n.969T>G
  • U14680.1:n.911T>G
Protein change:
S136R
Links:
dbSNP: rs80357214
NCBI 1000 Genomes Browser:
rs80357214
Molecular consequence:
  • NM_001407966.1:c.-97T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407967.1:c.-97T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407968.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1107T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1107T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1107T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1107T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1107T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1107T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1107T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1107T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3707T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3707T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1107T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1107T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3707T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.579T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.783T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.783T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.714T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.714T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.714T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.714T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.714T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.714T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.711T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.711T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.711T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.711T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.714T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.579T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.789T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.591T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.588T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.588T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.579T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.579T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.579T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.579T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.579T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.579T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.582T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.579T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.579T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.579T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.579T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.528T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.525T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.666T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.459T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.459T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.459T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.459T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.459T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.459T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.459T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.459T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.456T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.456T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.456T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.459T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.456T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.411T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.411T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.408T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.411T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.288T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.651T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.792T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.790+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002205534Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Nov 30, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.

Anczuków O, Buisson M, Salles MJ, Triboulet S, Longy M, Lidereau R, Sinilnikova OM, Mazoyer S.

Genes Chromosomes Cancer. 2008 May;47(5):418-26. doi: 10.1002/gcc.20546.

PubMed [citation]
PMID:
18273839

BRCA1 Gene Mutations in Breast Cancer Patients from Kerman Province, Iran.

Saleh-Gohari N, Mohammadi-Anaie M, Kalantari-Khandani B.

Iran J Cancer Prev. 2012 Fall;5(4):210-5.

PubMed [citation]
PMID:
25352972
PMCID:
PMC4209574
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV002205534.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Studies have shown that this variant is associated with altered splicing, but the impact on the resulting protein product is unknown (PMID: 18273839). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 55706). This variant is also known as 911T>G. This missense change has been observed in individual(s) with breast or ovarian cancer (PMID: 18273839, 25352972). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 264 of the BRCA1 protein (p.Ser264Arg).

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

Last Updated: Jun 2, 2024