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NM_007294.4(BRCA1):c.4205A>G (p.His1402Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 19, 2024
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:
RCV004526607.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.4205A>G (p.His1402Arg)]

NM_007294.4(BRCA1):c.4205A>G (p.His1402Arg)

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.4205A>G (p.His1402Arg)
HGVS:
  • NC_000017.11:g.43082556T>C
  • NG_005905.2:g.135428A>G
  • NM_001407571.1:c.3992A>G
  • NM_001407581.1:c.4205A>G
  • NM_001407582.1:c.4205A>G
  • NM_001407583.1:c.4205A>G
  • NM_001407585.1:c.4205A>G
  • NM_001407587.1:c.4202A>G
  • NM_001407590.1:c.4202A>G
  • NM_001407591.1:c.4202A>G
  • NM_001407593.1:c.4205A>G
  • NM_001407594.1:c.4205A>G
  • NM_001407596.1:c.4205A>G
  • NM_001407597.1:c.4205A>G
  • NM_001407598.1:c.4205A>G
  • NM_001407602.1:c.4205A>G
  • NM_001407603.1:c.4205A>G
  • NM_001407605.1:c.4205A>G
  • NM_001407610.1:c.4202A>G
  • NM_001407611.1:c.4202A>G
  • NM_001407612.1:c.4202A>G
  • NM_001407613.1:c.4202A>G
  • NM_001407614.1:c.4202A>G
  • NM_001407615.1:c.4202A>G
  • NM_001407616.1:c.4205A>G
  • NM_001407617.1:c.4205A>G
  • NM_001407618.1:c.4205A>G
  • NM_001407619.1:c.4205A>G
  • NM_001407620.1:c.4205A>G
  • NM_001407621.1:c.4205A>G
  • NM_001407622.1:c.4205A>G
  • NM_001407623.1:c.4205A>G
  • NM_001407624.1:c.4202A>G
  • NM_001407625.1:c.4202A>G
  • NM_001407626.1:c.4202A>G
  • NM_001407627.1:c.4199A>G
  • NM_001407628.1:c.4199A>G
  • NM_001407629.1:c.4199A>G
  • NM_001407630.1:c.4199A>G
  • NM_001407631.1:c.4199A>G
  • NM_001407632.1:c.4199A>G
  • NM_001407633.1:c.4202A>G
  • NM_001407634.1:c.4202A>G
  • NM_001407635.1:c.4202A>G
  • NM_001407636.1:c.4202A>G
  • NM_001407637.1:c.4202A>G
  • NM_001407638.1:c.4202A>G
  • NM_001407639.1:c.4202A>G
  • NM_001407640.1:c.4202A>G
  • NM_001407641.1:c.4202A>G
  • NM_001407642.1:c.4202A>G
  • NM_001407644.1:c.4199A>G
  • NM_001407645.1:c.4199A>G
  • NM_001407646.1:c.4193A>G
  • NM_001407647.1:c.4193A>G
  • NM_001407648.1:c.4082A>G
  • NM_001407649.1:c.4079A>G
  • NM_001407652.1:c.4205A>G
  • NM_001407653.1:c.4127A>G
  • NM_001407654.1:c.4127A>G
  • NM_001407655.1:c.4127A>G
  • NM_001407656.1:c.4124A>G
  • NM_001407657.1:c.4127A>G
  • NM_001407658.1:c.4127A>G
  • NM_001407659.1:c.4121A>G
  • NM_001407660.1:c.4121A>G
  • NM_001407661.1:c.4124A>G
  • NM_001407662.1:c.4124A>G
  • NM_001407663.1:c.4124A>G
  • NM_001407664.1:c.4082A>G
  • NM_001407665.1:c.4082A>G
  • NM_001407666.1:c.4082A>G
  • NM_001407667.1:c.4082A>G
  • NM_001407668.1:c.4082A>G
  • NM_001407669.1:c.4082A>G
  • NM_001407670.1:c.4079A>G
  • NM_001407671.1:c.4079A>G
  • NM_001407672.1:c.4079A>G
  • NM_001407673.1:c.4079A>G
  • NM_001407674.1:c.4079A>G
  • NM_001407675.1:c.4079A>G
  • NM_001407676.1:c.4079A>G
  • NM_001407677.1:c.4082A>G
  • NM_001407678.1:c.4082A>G
  • NM_001407679.1:c.4082A>G
  • NM_001407680.1:c.4082A>G
  • NM_001407681.1:c.4079A>G
  • NM_001407682.1:c.4079A>G
  • NM_001407683.1:c.4079A>G
  • NM_001407684.1:c.4205A>G
  • NM_001407685.1:c.4076A>G
  • NM_001407686.1:c.4076A>G
  • NM_001407687.1:c.4076A>G
  • NM_001407688.1:c.4079A>G
  • NM_001407689.1:c.4079A>G
  • NM_001407690.1:c.4076A>G
  • NM_001407691.1:c.4076A>G
  • NM_001407692.1:c.4064A>G
  • NM_001407694.1:c.4064A>G
  • NM_001407695.1:c.4064A>G
  • NM_001407696.1:c.4064A>G
  • NM_001407697.1:c.4064A>G
  • NM_001407698.1:c.4064A>G
  • NM_001407724.1:c.4064A>G
  • NM_001407725.1:c.4064A>G
  • NM_001407726.1:c.4064A>G
  • NM_001407727.1:c.4064A>G
  • NM_001407728.1:c.4064A>G
  • NM_001407729.1:c.4064A>G
  • NM_001407730.1:c.4064A>G
  • NM_001407731.1:c.4064A>G
  • NM_001407732.1:c.4064A>G
  • NM_001407733.1:c.4064A>G
  • NM_001407734.1:c.4064A>G
  • NM_001407735.1:c.4064A>G
  • NM_001407736.1:c.4064A>G
  • NM_001407737.1:c.4064A>G
  • NM_001407738.1:c.4064A>G
  • NM_001407739.1:c.4064A>G
  • NM_001407740.1:c.4061A>G
  • NM_001407741.1:c.4061A>G
  • NM_001407742.1:c.4061A>G
  • NM_001407743.1:c.4061A>G
  • NM_001407744.1:c.4061A>G
  • NM_001407745.1:c.4061A>G
  • NM_001407746.1:c.4061A>G
  • NM_001407747.1:c.4061A>G
  • NM_001407748.1:c.4061A>G
  • NM_001407749.1:c.4061A>G
  • NM_001407750.1:c.4061A>G
  • NM_001407751.1:c.4061A>G
  • NM_001407752.1:c.4061A>G
  • NM_001407838.1:c.4061A>G
  • NM_001407839.1:c.4061A>G
  • NM_001407841.1:c.4061A>G
  • NM_001407842.1:c.4061A>G
  • NM_001407843.1:c.4061A>G
  • NM_001407844.1:c.4061A>G
  • NM_001407845.1:c.4061A>G
  • NM_001407846.1:c.4061A>G
  • NM_001407847.1:c.4058A>G
  • NM_001407848.1:c.4058A>G
  • NM_001407849.1:c.4058A>G
  • NM_001407850.1:c.4061A>G
  • NM_001407851.1:c.4061A>G
  • NM_001407852.1:c.4061A>G
  • NM_001407853.1:c.3992A>G
  • NM_001407854.1:c.4205A>G
  • NM_001407858.1:c.4205A>G
  • NM_001407859.1:c.4205A>G
  • NM_001407860.1:c.4202A>G
  • NM_001407861.1:c.4202A>G
  • NM_001407862.1:c.4004A>G
  • NM_001407863.1:c.4082A>G
  • NM_001407874.1:c.4001A>G
  • NM_001407875.1:c.4001A>G
  • NM_001407879.1:c.3995A>G
  • NM_001407881.1:c.3995A>G
  • NM_001407882.1:c.3995A>G
  • NM_001407884.1:c.3995A>G
  • NM_001407885.1:c.3995A>G
  • NM_001407886.1:c.3995A>G
  • NM_001407887.1:c.3995A>G
  • NM_001407889.1:c.3995A>G
  • NM_001407894.1:c.3992A>G
  • NM_001407895.1:c.3992A>G
  • NM_001407896.1:c.3992A>G
  • NM_001407897.1:c.3992A>G
  • NM_001407898.1:c.3992A>G
  • NM_001407899.1:c.3992A>G
  • NM_001407900.1:c.3995A>G
  • NM_001407902.1:c.3995A>G
  • NM_001407904.1:c.3995A>G
  • NM_001407906.1:c.3995A>G
  • NM_001407907.1:c.3992A>G
  • NM_001407908.1:c.3992A>G
  • NM_001407909.1:c.3992A>G
  • NM_001407910.1:c.3992A>G
  • NM_001407915.1:c.3989A>G
  • NM_001407916.1:c.3992A>G
  • NM_001407917.1:c.3992A>G
  • NM_001407918.1:c.3992A>G
  • NM_001407919.1:c.4082A>G
  • NM_001407920.1:c.3941A>G
  • NM_001407921.1:c.3941A>G
  • NM_001407922.1:c.3941A>G
  • NM_001407923.1:c.3941A>G
  • NM_001407924.1:c.3941A>G
  • NM_001407925.1:c.3941A>G
  • NM_001407926.1:c.3941A>G
  • NM_001407927.1:c.3941A>G
  • NM_001407928.1:c.3941A>G
  • NM_001407929.1:c.3941A>G
  • NM_001407930.1:c.3938A>G
  • NM_001407931.1:c.3938A>G
  • NM_001407932.1:c.3938A>G
  • NM_001407933.1:c.3938A>G
  • NM_001407934.1:c.3935A>G
  • NM_001407935.1:c.3938A>G
  • NM_001407936.1:c.3938A>G
  • NM_001407937.1:c.4082A>G
  • NM_001407938.1:c.4082A>G
  • NM_001407939.1:c.4082A>G
  • NM_001407940.1:c.4079A>G
  • NM_001407941.1:c.4079A>G
  • NM_001407942.1:c.4064A>G
  • NM_001407943.1:c.4061A>G
  • NM_001407944.1:c.4064A>G
  • NM_001407945.1:c.4064A>G
  • NM_001407946.1:c.3872A>G
  • NM_001407947.1:c.3872A>G
  • NM_001407948.1:c.3872A>G
  • NM_001407949.1:c.3872A>G
  • NM_001407950.1:c.3872A>G
  • NM_001407951.1:c.3872A>G
  • NM_001407952.1:c.3869A>G
  • NM_001407953.1:c.3869A>G
  • NM_001407954.1:c.3869A>G
  • NM_001407955.1:c.3869A>G
  • NM_001407956.1:c.3866A>G
  • NM_001407957.1:c.3869A>G
  • NM_001407958.1:c.3869A>G
  • NM_001407959.1:c.3824A>G
  • NM_001407960.1:c.3824A>G
  • NM_001407962.1:c.3821A>G
  • NM_001407963.1:c.3821A>G
  • NM_001407964.1:c.4061A>G
  • NM_001407965.1:c.3698A>G
  • NM_001407966.1:c.3317A>G
  • NM_001407967.1:c.3317A>G
  • NM_001407968.1:c.1601A>G
  • NM_001407969.1:c.1598A>G
  • NM_001407970.1:c.896A>G
  • NM_001407971.1:c.896A>G
  • NM_001407972.1:c.893A>G
  • NM_001407973.1:c.896A>G
  • NM_001407974.1:c.896A>G
  • NM_001407975.1:c.896A>G
  • NM_001407976.1:c.896A>G
  • NM_001407977.1:c.896A>G
  • NM_001407978.1:c.896A>G
  • NM_001407979.1:c.893A>G
  • NM_001407980.1:c.893A>G
  • NM_001407981.1:c.893A>G
  • NM_001407982.1:c.893A>G
  • NM_001407983.1:c.893A>G
  • NM_001407984.1:c.893A>G
  • NM_001407985.1:c.893A>G
  • NM_001407986.1:c.893A>G
  • NM_001407990.1:c.893A>G
  • NM_001407991.1:c.893A>G
  • NM_001407992.1:c.893A>G
  • NM_001407993.1:c.896A>G
  • NM_001408392.1:c.893A>G
  • NM_001408396.1:c.893A>G
  • NM_001408397.1:c.893A>G
  • NM_001408398.1:c.893A>G
  • NM_001408399.1:c.893A>G
  • NM_001408400.1:c.890A>G
  • NM_001408401.1:c.890A>G
  • NM_001408402.1:c.890A>G
  • NM_001408403.1:c.893A>G
  • NM_001408404.1:c.893A>G
  • NM_001408406.1:c.887A>G
  • NM_001408407.1:c.890A>G
  • NM_001408408.1:c.887A>G
  • NM_001408409.1:c.818A>G
  • NM_001408410.1:c.755A>G
  • NM_001408411.1:c.818A>G
  • NM_001408412.1:c.818A>G
  • NM_001408413.1:c.815A>G
  • NM_001408414.1:c.818A>G
  • NM_001408415.1:c.818A>G
  • NM_001408416.1:c.815A>G
  • NM_001408418.1:c.779A>G
  • NM_001408419.1:c.779A>G
  • NM_001408420.1:c.779A>G
  • NM_001408421.1:c.776A>G
  • NM_001408422.1:c.779A>G
  • NM_001408423.1:c.779A>G
  • NM_001408424.1:c.776A>G
  • NM_001408425.1:c.773A>G
  • NM_001408426.1:c.773A>G
  • NM_001408427.1:c.773A>G
  • NM_001408428.1:c.773A>G
  • NM_001408429.1:c.773A>G
  • NM_001408430.1:c.773A>G
  • NM_001408431.1:c.776A>G
  • NM_001408432.1:c.770A>G
  • NM_001408433.1:c.770A>G
  • NM_001408434.1:c.770A>G
  • NM_001408435.1:c.770A>G
  • NM_001408436.1:c.773A>G
  • NM_001408437.1:c.773A>G
  • NM_001408438.1:c.773A>G
  • NM_001408439.1:c.773A>G
  • NM_001408440.1:c.773A>G
  • NM_001408441.1:c.770A>G
  • NM_001408442.1:c.770A>G
  • NM_001408443.1:c.770A>G
  • NM_001408444.1:c.770A>G
  • NM_001408445.1:c.770A>G
  • NM_001408446.1:c.770A>G
  • NM_001408447.1:c.770A>G
  • NM_001408448.1:c.770A>G
  • NM_001408450.1:c.770A>G
  • NM_001408451.1:c.761A>G
  • NM_001408452.1:c.755A>G
  • NM_001408453.1:c.755A>G
  • NM_001408454.1:c.755A>G
  • NM_001408455.1:c.755A>G
  • NM_001408456.1:c.755A>G
  • NM_001408457.1:c.755A>G
  • NM_001408458.1:c.755A>G
  • NM_001408459.1:c.755A>G
  • NM_001408460.1:c.755A>G
  • NM_001408461.1:c.755A>G
  • NM_001408462.1:c.752A>G
  • NM_001408463.1:c.752A>G
  • NM_001408464.1:c.752A>G
  • NM_001408465.1:c.752A>G
  • NM_001408466.1:c.752A>G
  • NM_001408467.1:c.752A>G
  • NM_001408468.1:c.752A>G
  • NM_001408469.1:c.752A>G
  • NM_001408470.1:c.749A>G
  • NM_001408472.1:c.893A>G
  • NM_001408473.1:c.893A>G
  • NM_001408474.1:c.695A>G
  • NM_001408475.1:c.692A>G
  • NM_001408476.1:c.695A>G
  • NM_001408478.1:c.686A>G
  • NM_001408479.1:c.686A>G
  • NM_001408480.1:c.686A>G
  • NM_001408481.1:c.686A>G
  • NM_001408482.1:c.686A>G
  • NM_001408483.1:c.686A>G
  • NM_001408484.1:c.686A>G
  • NM_001408485.1:c.686A>G
  • NM_001408489.1:c.683A>G
  • NM_001408490.1:c.683A>G
  • NM_001408491.1:c.683A>G
  • NM_001408492.1:c.683A>G
  • NM_001408493.1:c.683A>G
  • NM_001408494.1:c.656A>G
  • NM_001408495.1:c.653A>G
  • NM_001408496.1:c.632A>G
  • NM_001408497.1:c.632A>G
  • NM_001408498.1:c.632A>G
  • NM_001408499.1:c.632A>G
  • NM_001408500.1:c.632A>G
  • NM_001408501.1:c.632A>G
  • NM_001408502.1:c.563A>G
  • NM_001408503.1:c.629A>G
  • NM_001408504.1:c.629A>G
  • NM_001408505.1:c.629A>G
  • NM_001408506.1:c.569A>G
  • NM_001408507.1:c.566A>G
  • NM_001408508.1:c.557A>G
  • NM_001408509.1:c.557A>G
  • NM_001408510.1:c.515A>G
  • NM_001408511.1:c.512A>G
  • NM_001408512.1:c.392A>G
  • NM_001408513.1:c.683A>G
  • NM_001408514.1:c.686A>G
  • NM_007294.4:c.4205A>GMANE SELECT
  • NM_007297.4:c.4064A>G
  • NM_007298.4:c.896A>G
  • NM_007299.4:c.896A>G
  • NM_007300.4:c.4205A>G
  • NM_007304.2:c.896A>G
  • NP_001394500.1:p.His1331Arg
  • NP_001394510.1:p.His1402Arg
  • NP_001394511.1:p.His1402Arg
  • NP_001394512.1:p.His1402Arg
  • NP_001394514.1:p.His1402Arg
  • NP_001394516.1:p.His1401Arg
  • NP_001394519.1:p.His1401Arg
  • NP_001394520.1:p.His1401Arg
  • NP_001394522.1:p.His1402Arg
  • NP_001394523.1:p.His1402Arg
  • NP_001394525.1:p.His1402Arg
  • NP_001394526.1:p.His1402Arg
  • NP_001394527.1:p.His1402Arg
  • NP_001394531.1:p.His1402Arg
  • NP_001394532.1:p.His1402Arg
  • NP_001394534.1:p.His1402Arg
  • NP_001394539.1:p.His1401Arg
  • NP_001394540.1:p.His1401Arg
  • NP_001394541.1:p.His1401Arg
  • NP_001394542.1:p.His1401Arg
  • NP_001394543.1:p.His1401Arg
  • NP_001394544.1:p.His1401Arg
  • NP_001394545.1:p.His1402Arg
  • NP_001394546.1:p.His1402Arg
  • NP_001394547.1:p.His1402Arg
  • NP_001394548.1:p.His1402Arg
  • NP_001394549.1:p.His1402Arg
  • NP_001394550.1:p.His1402Arg
  • NP_001394551.1:p.His1402Arg
  • NP_001394552.1:p.His1402Arg
  • NP_001394553.1:p.His1401Arg
  • NP_001394554.1:p.His1401Arg
  • NP_001394555.1:p.His1401Arg
  • NP_001394556.1:p.His1400Arg
  • NP_001394557.1:p.His1400Arg
  • NP_001394558.1:p.His1400Arg
  • NP_001394559.1:p.His1400Arg
  • NP_001394560.1:p.His1400Arg
  • NP_001394561.1:p.His1400Arg
  • NP_001394562.1:p.His1401Arg
  • NP_001394563.1:p.His1401Arg
  • NP_001394564.1:p.His1401Arg
  • NP_001394565.1:p.His1401Arg
  • NP_001394566.1:p.His1401Arg
  • NP_001394567.1:p.His1401Arg
  • NP_001394568.1:p.His1401Arg
  • NP_001394569.1:p.His1401Arg
  • NP_001394570.1:p.His1401Arg
  • NP_001394571.1:p.His1401Arg
  • NP_001394573.1:p.His1400Arg
  • NP_001394574.1:p.His1400Arg
  • NP_001394575.1:p.His1398Arg
  • NP_001394576.1:p.His1398Arg
  • NP_001394577.1:p.His1361Arg
  • NP_001394578.1:p.His1360Arg
  • NP_001394581.1:p.His1402Arg
  • NP_001394582.1:p.His1376Arg
  • NP_001394583.1:p.His1376Arg
  • NP_001394584.1:p.His1376Arg
  • NP_001394585.1:p.His1375Arg
  • NP_001394586.1:p.His1376Arg
  • NP_001394587.1:p.His1376Arg
  • NP_001394588.1:p.His1374Arg
  • NP_001394589.1:p.His1374Arg
  • NP_001394590.1:p.His1375Arg
  • NP_001394591.1:p.His1375Arg
  • NP_001394592.1:p.His1375Arg
  • NP_001394593.1:p.His1361Arg
  • NP_001394594.1:p.His1361Arg
  • NP_001394595.1:p.His1361Arg
  • NP_001394596.1:p.His1361Arg
  • NP_001394597.1:p.His1361Arg
  • NP_001394598.1:p.His1361Arg
  • NP_001394599.1:p.His1360Arg
  • NP_001394600.1:p.His1360Arg
  • NP_001394601.1:p.His1360Arg
  • NP_001394602.1:p.His1360Arg
  • NP_001394603.1:p.His1360Arg
  • NP_001394604.1:p.His1360Arg
  • NP_001394605.1:p.His1360Arg
  • NP_001394606.1:p.His1361Arg
  • NP_001394607.1:p.His1361Arg
  • NP_001394608.1:p.His1361Arg
  • NP_001394609.1:p.His1361Arg
  • NP_001394610.1:p.His1360Arg
  • NP_001394611.1:p.His1360Arg
  • NP_001394612.1:p.His1360Arg
  • NP_001394613.1:p.His1402Arg
  • NP_001394614.1:p.His1359Arg
  • NP_001394615.1:p.His1359Arg
  • NP_001394616.1:p.His1359Arg
  • NP_001394617.1:p.His1360Arg
  • NP_001394618.1:p.His1360Arg
  • NP_001394619.1:p.His1359Arg
  • NP_001394620.1:p.His1359Arg
  • NP_001394621.1:p.His1355Arg
  • NP_001394623.1:p.His1355Arg
  • NP_001394624.1:p.His1355Arg
  • NP_001394625.1:p.His1355Arg
  • NP_001394626.1:p.His1355Arg
  • NP_001394627.1:p.His1355Arg
  • NP_001394653.1:p.His1355Arg
  • NP_001394654.1:p.His1355Arg
  • NP_001394655.1:p.His1355Arg
  • NP_001394656.1:p.His1355Arg
  • NP_001394657.1:p.His1355Arg
  • NP_001394658.1:p.His1355Arg
  • NP_001394659.1:p.His1355Arg
  • NP_001394660.1:p.His1355Arg
  • NP_001394661.1:p.His1355Arg
  • NP_001394662.1:p.His1355Arg
  • NP_001394663.1:p.His1355Arg
  • NP_001394664.1:p.His1355Arg
  • NP_001394665.1:p.His1355Arg
  • NP_001394666.1:p.His1355Arg
  • NP_001394667.1:p.His1355Arg
  • NP_001394668.1:p.His1355Arg
  • NP_001394669.1:p.His1354Arg
  • NP_001394670.1:p.His1354Arg
  • NP_001394671.1:p.His1354Arg
  • NP_001394672.1:p.His1354Arg
  • NP_001394673.1:p.His1354Arg
  • NP_001394674.1:p.His1354Arg
  • NP_001394675.1:p.His1354Arg
  • NP_001394676.1:p.His1354Arg
  • NP_001394677.1:p.His1354Arg
  • NP_001394678.1:p.His1354Arg
  • NP_001394679.1:p.His1354Arg
  • NP_001394680.1:p.His1354Arg
  • NP_001394681.1:p.His1354Arg
  • NP_001394767.1:p.His1354Arg
  • NP_001394768.1:p.His1354Arg
  • NP_001394770.1:p.His1354Arg
  • NP_001394771.1:p.His1354Arg
  • NP_001394772.1:p.His1354Arg
  • NP_001394773.1:p.His1354Arg
  • NP_001394774.1:p.His1354Arg
  • NP_001394775.1:p.His1354Arg
  • NP_001394776.1:p.His1353Arg
  • NP_001394777.1:p.His1353Arg
  • NP_001394778.1:p.His1353Arg
  • NP_001394779.1:p.His1354Arg
  • NP_001394780.1:p.His1354Arg
  • NP_001394781.1:p.His1354Arg
  • NP_001394782.1:p.His1331Arg
  • NP_001394783.1:p.His1402Arg
  • NP_001394787.1:p.His1402Arg
  • NP_001394788.1:p.His1402Arg
  • NP_001394789.1:p.His1401Arg
  • NP_001394790.1:p.His1401Arg
  • NP_001394791.1:p.His1335Arg
  • NP_001394792.1:p.His1361Arg
  • NP_001394803.1:p.His1334Arg
  • NP_001394804.1:p.His1334Arg
  • NP_001394808.1:p.His1332Arg
  • NP_001394810.1:p.His1332Arg
  • NP_001394811.1:p.His1332Arg
  • NP_001394813.1:p.His1332Arg
  • NP_001394814.1:p.His1332Arg
  • NP_001394815.1:p.His1332Arg
  • NP_001394816.1:p.His1332Arg
  • NP_001394818.1:p.His1332Arg
  • NP_001394823.1:p.His1331Arg
  • NP_001394824.1:p.His1331Arg
  • NP_001394825.1:p.His1331Arg
  • NP_001394826.1:p.His1331Arg
  • NP_001394827.1:p.His1331Arg
  • NP_001394828.1:p.His1331Arg
  • NP_001394829.1:p.His1332Arg
  • NP_001394831.1:p.His1332Arg
  • NP_001394833.1:p.His1332Arg
  • NP_001394835.1:p.His1332Arg
  • NP_001394836.1:p.His1331Arg
  • NP_001394837.1:p.His1331Arg
  • NP_001394838.1:p.His1331Arg
  • NP_001394839.1:p.His1331Arg
  • NP_001394844.1:p.His1330Arg
  • NP_001394845.1:p.His1331Arg
  • NP_001394846.1:p.His1331Arg
  • NP_001394847.1:p.His1331Arg
  • NP_001394848.1:p.His1361Arg
  • NP_001394849.1:p.His1314Arg
  • NP_001394850.1:p.His1314Arg
  • NP_001394851.1:p.His1314Arg
  • NP_001394852.1:p.His1314Arg
  • NP_001394853.1:p.His1314Arg
  • NP_001394854.1:p.His1314Arg
  • NP_001394855.1:p.His1314Arg
  • NP_001394856.1:p.His1314Arg
  • NP_001394857.1:p.His1314Arg
  • NP_001394858.1:p.His1314Arg
  • NP_001394859.1:p.His1313Arg
  • NP_001394860.1:p.His1313Arg
  • NP_001394861.1:p.His1313Arg
  • NP_001394862.1:p.His1313Arg
  • NP_001394863.1:p.His1312Arg
  • NP_001394864.1:p.His1313Arg
  • NP_001394865.1:p.His1313Arg
  • NP_001394866.1:p.His1361Arg
  • NP_001394867.1:p.His1361Arg
  • NP_001394868.1:p.His1361Arg
  • NP_001394869.1:p.His1360Arg
  • NP_001394870.1:p.His1360Arg
  • NP_001394871.1:p.His1355Arg
  • NP_001394872.1:p.His1354Arg
  • NP_001394873.1:p.His1355Arg
  • NP_001394874.1:p.His1355Arg
  • NP_001394875.1:p.His1291Arg
  • NP_001394876.1:p.His1291Arg
  • NP_001394877.1:p.His1291Arg
  • NP_001394878.1:p.His1291Arg
  • NP_001394879.1:p.His1291Arg
  • NP_001394880.1:p.His1291Arg
  • NP_001394881.1:p.His1290Arg
  • NP_001394882.1:p.His1290Arg
  • NP_001394883.1:p.His1290Arg
  • NP_001394884.1:p.His1290Arg
  • NP_001394885.1:p.His1289Arg
  • NP_001394886.1:p.His1290Arg
  • NP_001394887.1:p.His1290Arg
  • NP_001394888.1:p.His1275Arg
  • NP_001394889.1:p.His1275Arg
  • NP_001394891.1:p.His1274Arg
  • NP_001394892.1:p.His1274Arg
  • NP_001394893.1:p.His1354Arg
  • NP_001394894.1:p.His1233Arg
  • NP_001394895.1:p.His1106Arg
  • NP_001394896.1:p.His1106Arg
  • NP_001394897.1:p.His534Arg
  • NP_001394898.1:p.His533Arg
  • NP_001394899.1:p.His299Arg
  • NP_001394900.1:p.His299Arg
  • NP_001394901.1:p.His298Arg
  • NP_001394902.1:p.His299Arg
  • NP_001394903.1:p.His299Arg
  • NP_001394904.1:p.His299Arg
  • NP_001394905.1:p.His299Arg
  • NP_001394906.1:p.His299Arg
  • NP_001394907.1:p.His299Arg
  • NP_001394908.1:p.His298Arg
  • NP_001394909.1:p.His298Arg
  • NP_001394910.1:p.His298Arg
  • NP_001394911.1:p.His298Arg
  • NP_001394912.1:p.His298Arg
  • NP_001394913.1:p.His298Arg
  • NP_001394914.1:p.His298Arg
  • NP_001394915.1:p.His298Arg
  • NP_001394919.1:p.His298Arg
  • NP_001394920.1:p.His298Arg
  • NP_001394921.1:p.His298Arg
  • NP_001394922.1:p.His299Arg
  • NP_001395321.1:p.His298Arg
  • NP_001395325.1:p.His298Arg
  • NP_001395326.1:p.His298Arg
  • NP_001395327.1:p.His298Arg
  • NP_001395328.1:p.His298Arg
  • NP_001395329.1:p.His297Arg
  • NP_001395330.1:p.His297Arg
  • NP_001395331.1:p.His297Arg
  • NP_001395332.1:p.His298Arg
  • NP_001395333.1:p.His298Arg
  • NP_001395335.1:p.His296Arg
  • NP_001395336.1:p.His297Arg
  • NP_001395337.1:p.His296Arg
  • NP_001395338.1:p.His273Arg
  • NP_001395339.1:p.His252Arg
  • NP_001395340.1:p.His273Arg
  • NP_001395341.1:p.His273Arg
  • NP_001395342.1:p.His272Arg
  • NP_001395343.1:p.His273Arg
  • NP_001395344.1:p.His273Arg
  • NP_001395345.1:p.His272Arg
  • NP_001395347.1:p.His260Arg
  • NP_001395348.1:p.His260Arg
  • NP_001395349.1:p.His260Arg
  • NP_001395350.1:p.His259Arg
  • NP_001395351.1:p.His260Arg
  • NP_001395352.1:p.His260Arg
  • NP_001395353.1:p.His259Arg
  • NP_001395354.1:p.His258Arg
  • NP_001395355.1:p.His258Arg
  • NP_001395356.1:p.His258Arg
  • NP_001395357.1:p.His258Arg
  • NP_001395358.1:p.His258Arg
  • NP_001395359.1:p.His258Arg
  • NP_001395360.1:p.His259Arg
  • NP_001395361.1:p.His257Arg
  • NP_001395362.1:p.His257Arg
  • NP_001395363.1:p.His257Arg
  • NP_001395364.1:p.His257Arg
  • NP_001395365.1:p.His258Arg
  • NP_001395366.1:p.His258Arg
  • NP_001395367.1:p.His258Arg
  • NP_001395368.1:p.His258Arg
  • NP_001395369.1:p.His258Arg
  • NP_001395370.1:p.His257Arg
  • NP_001395371.1:p.His257Arg
  • NP_001395372.1:p.His257Arg
  • NP_001395373.1:p.His257Arg
  • NP_001395374.1:p.His257Arg
  • NP_001395375.1:p.His257Arg
  • NP_001395376.1:p.His257Arg
  • NP_001395377.1:p.His257Arg
  • NP_001395379.1:p.His257Arg
  • NP_001395380.1:p.His254Arg
  • NP_001395381.1:p.His252Arg
  • NP_001395382.1:p.His252Arg
  • NP_001395383.1:p.His252Arg
  • NP_001395384.1:p.His252Arg
  • NP_001395385.1:p.His252Arg
  • NP_001395386.1:p.His252Arg
  • NP_001395387.1:p.His252Arg
  • NP_001395388.1:p.His252Arg
  • NP_001395389.1:p.His252Arg
  • NP_001395390.1:p.His252Arg
  • NP_001395391.1:p.His251Arg
  • NP_001395392.1:p.His251Arg
  • NP_001395393.1:p.His251Arg
  • NP_001395394.1:p.His251Arg
  • NP_001395395.1:p.His251Arg
  • NP_001395396.1:p.His251Arg
  • NP_001395397.1:p.His251Arg
  • NP_001395398.1:p.His251Arg
  • NP_001395399.1:p.His250Arg
  • NP_001395401.1:p.His298Arg
  • NP_001395402.1:p.His298Arg
  • NP_001395403.1:p.His232Arg
  • NP_001395404.1:p.His231Arg
  • NP_001395405.1:p.His232Arg
  • NP_001395407.1:p.His229Arg
  • NP_001395408.1:p.His229Arg
  • NP_001395409.1:p.His229Arg
  • NP_001395410.1:p.His229Arg
  • NP_001395411.1:p.His229Arg
  • NP_001395412.1:p.His229Arg
  • NP_001395413.1:p.His229Arg
  • NP_001395414.1:p.His229Arg
  • NP_001395418.1:p.His228Arg
  • NP_001395419.1:p.His228Arg
  • NP_001395420.1:p.His228Arg
  • NP_001395421.1:p.His228Arg
  • NP_001395422.1:p.His228Arg
  • NP_001395423.1:p.His219Arg
  • NP_001395424.1:p.His218Arg
  • NP_001395425.1:p.His211Arg
  • NP_001395426.1:p.His211Arg
  • NP_001395427.1:p.His211Arg
  • NP_001395428.1:p.His211Arg
  • NP_001395429.1:p.His211Arg
  • NP_001395430.1:p.His211Arg
  • NP_001395431.1:p.His188Arg
  • NP_001395432.1:p.His210Arg
  • NP_001395433.1:p.His210Arg
  • NP_001395434.1:p.His210Arg
  • NP_001395435.1:p.His190Arg
  • NP_001395436.1:p.His189Arg
  • NP_001395437.1:p.His186Arg
  • NP_001395438.1:p.His186Arg
  • NP_001395439.1:p.His172Arg
  • NP_001395440.1:p.His171Arg
  • NP_001395441.1:p.His131Arg
  • NP_001395442.1:p.His228Arg
  • NP_001395443.1:p.His229Arg
  • NP_009225.1:p.His1402Arg
  • NP_009225.1:p.His1402Arg
  • NP_009228.2:p.His1355Arg
  • NP_009229.2:p.His299Arg
  • NP_009229.2:p.His299Arg
  • NP_009230.2:p.His299Arg
  • NP_009231.2:p.His1402Arg
  • NP_009235.2:p.His299Arg
  • LRG_292t1:c.4205A>G
  • LRG_292:g.135428A>G
  • LRG_292p1:p.His1402Arg
  • NC_000017.10:g.41234573T>C
  • NM_007294.3:c.4205A>G
  • NM_007298.3:c.896A>G
  • NR_027676.2:n.4382A>G
  • U14680.1:n.4324A>G
Protein change:
H1106R
Links:
dbSNP: rs80356882
NCBI 1000 Genomes Browser:
rs80356882
Molecular consequence:
  • NM_001407571.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4199A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4199A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4199A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4199A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4199A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4199A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4199A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4199A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4127A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4127A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4127A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4127A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4127A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4076A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4076A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4076A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4076A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4076A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4058A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4004A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4001A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4001A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3989A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3992A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3941A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4082A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4079A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3872A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3824A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3824A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3821A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4061A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3698A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3317A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3317A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1601A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.815A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.818A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.815A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.776A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.779A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.776A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.773A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.773A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.773A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.773A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.773A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.773A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.776A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.773A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.773A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.773A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.773A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.773A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.761A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.749A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.695A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.692A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.695A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.683A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.683A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.683A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.683A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.683A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.656A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.653A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.632A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.563A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.629A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.629A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.629A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.569A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.566A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.515A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.512A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.392A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.683A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4064A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4382A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005039702Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Mar 19, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
16267036

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Woods NT, Baskin R, Golubeva V, Jhuraney A, De-Gregoriis G, Vaclova T, Goldgar DE, Couch FJ, Carvalho MA, Iversen ES, Monteiro AN.

NPJ Genom Med. 2016;1. doi:pii: 16001. 10.1038/npjgenmed.2016.1. Epub 2016 Mar 2.

PubMed [citation]
PMID:
28781887
PMCID:
PMC5539989

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005039702.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: BRCA1 c.4205A>G (p.His1402Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251354 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4205A>G has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome without strong evidence of causality (Judkins_2005). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. A transcriptional activation study reports the variant to have similar to wild-type activity (Woods_2016). The following publications have been ascertained in the context of this evaluation (PMID: 16267036, 28781887). ClinVar contains an entry for this variant (Variation ID: 55141). Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Nov 10, 2024