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NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 2020
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:
RCV001251289.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg)]

NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg)

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.4211T>G (p.Leu1404Arg)
HGVS:
  • NC_000017.11:g.43082550A>C
  • NG_005905.2:g.135434T>G
  • NM_001407571.1:c.3998T>G
  • NM_001407581.1:c.4211T>G
  • NM_001407582.1:c.4211T>G
  • NM_001407583.1:c.4211T>G
  • NM_001407585.1:c.4211T>G
  • NM_001407587.1:c.4208T>G
  • NM_001407590.1:c.4208T>G
  • NM_001407591.1:c.4208T>G
  • NM_001407593.1:c.4211T>G
  • NM_001407594.1:c.4211T>G
  • NM_001407596.1:c.4211T>G
  • NM_001407597.1:c.4211T>G
  • NM_001407598.1:c.4211T>G
  • NM_001407602.1:c.4211T>G
  • NM_001407603.1:c.4211T>G
  • NM_001407605.1:c.4211T>G
  • NM_001407610.1:c.4208T>G
  • NM_001407611.1:c.4208T>G
  • NM_001407612.1:c.4208T>G
  • NM_001407613.1:c.4208T>G
  • NM_001407614.1:c.4208T>G
  • NM_001407615.1:c.4208T>G
  • NM_001407616.1:c.4211T>G
  • NM_001407617.1:c.4211T>G
  • NM_001407618.1:c.4211T>G
  • NM_001407619.1:c.4211T>G
  • NM_001407620.1:c.4211T>G
  • NM_001407621.1:c.4211T>G
  • NM_001407622.1:c.4211T>G
  • NM_001407623.1:c.4211T>G
  • NM_001407624.1:c.4208T>G
  • NM_001407625.1:c.4208T>G
  • NM_001407626.1:c.4208T>G
  • NM_001407627.1:c.4205T>G
  • NM_001407628.1:c.4205T>G
  • NM_001407629.1:c.4205T>G
  • NM_001407630.1:c.4205T>G
  • NM_001407631.1:c.4205T>G
  • NM_001407632.1:c.4205T>G
  • NM_001407633.1:c.4208T>G
  • NM_001407634.1:c.4208T>G
  • NM_001407635.1:c.4208T>G
  • NM_001407636.1:c.4208T>G
  • NM_001407637.1:c.4208T>G
  • NM_001407638.1:c.4208T>G
  • NM_001407639.1:c.4208T>G
  • NM_001407640.1:c.4208T>G
  • NM_001407641.1:c.4208T>G
  • NM_001407642.1:c.4208T>G
  • NM_001407644.1:c.4205T>G
  • NM_001407645.1:c.4205T>G
  • NM_001407646.1:c.4199T>G
  • NM_001407647.1:c.4199T>G
  • NM_001407648.1:c.4088T>G
  • NM_001407649.1:c.4085T>G
  • NM_001407652.1:c.4211T>G
  • NM_001407653.1:c.4133T>G
  • NM_001407654.1:c.4133T>G
  • NM_001407655.1:c.4133T>G
  • NM_001407656.1:c.4130T>G
  • NM_001407657.1:c.4133T>G
  • NM_001407658.1:c.4133T>G
  • NM_001407659.1:c.4127T>G
  • NM_001407660.1:c.4127T>G
  • NM_001407661.1:c.4130T>G
  • NM_001407662.1:c.4130T>G
  • NM_001407663.1:c.4130T>G
  • NM_001407664.1:c.4088T>G
  • NM_001407665.1:c.4088T>G
  • NM_001407666.1:c.4088T>G
  • NM_001407667.1:c.4088T>G
  • NM_001407668.1:c.4088T>G
  • NM_001407669.1:c.4088T>G
  • NM_001407670.1:c.4085T>G
  • NM_001407671.1:c.4085T>G
  • NM_001407672.1:c.4085T>G
  • NM_001407673.1:c.4085T>G
  • NM_001407674.1:c.4085T>G
  • NM_001407675.1:c.4085T>G
  • NM_001407676.1:c.4085T>G
  • NM_001407677.1:c.4088T>G
  • NM_001407678.1:c.4088T>G
  • NM_001407679.1:c.4088T>G
  • NM_001407680.1:c.4088T>G
  • NM_001407681.1:c.4085T>G
  • NM_001407682.1:c.4085T>G
  • NM_001407683.1:c.4085T>G
  • NM_001407684.1:c.4211T>G
  • NM_001407685.1:c.4082T>G
  • NM_001407686.1:c.4082T>G
  • NM_001407687.1:c.4082T>G
  • NM_001407688.1:c.4085T>G
  • NM_001407689.1:c.4085T>G
  • NM_001407690.1:c.4082T>G
  • NM_001407691.1:c.4082T>G
  • NM_001407692.1:c.4070T>G
  • NM_001407694.1:c.4070T>G
  • NM_001407695.1:c.4070T>G
  • NM_001407696.1:c.4070T>G
  • NM_001407697.1:c.4070T>G
  • NM_001407698.1:c.4070T>G
  • NM_001407724.1:c.4070T>G
  • NM_001407725.1:c.4070T>G
  • NM_001407726.1:c.4070T>G
  • NM_001407727.1:c.4070T>G
  • NM_001407728.1:c.4070T>G
  • NM_001407729.1:c.4070T>G
  • NM_001407730.1:c.4070T>G
  • NM_001407731.1:c.4070T>G
  • NM_001407732.1:c.4070T>G
  • NM_001407733.1:c.4070T>G
  • NM_001407734.1:c.4070T>G
  • NM_001407735.1:c.4070T>G
  • NM_001407736.1:c.4070T>G
  • NM_001407737.1:c.4070T>G
  • NM_001407738.1:c.4070T>G
  • NM_001407739.1:c.4070T>G
  • NM_001407740.1:c.4067T>G
  • NM_001407741.1:c.4067T>G
  • NM_001407742.1:c.4067T>G
  • NM_001407743.1:c.4067T>G
  • NM_001407744.1:c.4067T>G
  • NM_001407745.1:c.4067T>G
  • NM_001407746.1:c.4067T>G
  • NM_001407747.1:c.4067T>G
  • NM_001407748.1:c.4067T>G
  • NM_001407749.1:c.4067T>G
  • NM_001407750.1:c.4067T>G
  • NM_001407751.1:c.4067T>G
  • NM_001407752.1:c.4067T>G
  • NM_001407838.1:c.4067T>G
  • NM_001407839.1:c.4067T>G
  • NM_001407841.1:c.4067T>G
  • NM_001407842.1:c.4067T>G
  • NM_001407843.1:c.4067T>G
  • NM_001407844.1:c.4067T>G
  • NM_001407845.1:c.4067T>G
  • NM_001407846.1:c.4067T>G
  • NM_001407847.1:c.4064T>G
  • NM_001407848.1:c.4064T>G
  • NM_001407849.1:c.4064T>G
  • NM_001407850.1:c.4067T>G
  • NM_001407851.1:c.4067T>G
  • NM_001407852.1:c.4067T>G
  • NM_001407853.1:c.3998T>G
  • NM_001407854.1:c.4211T>G
  • NM_001407858.1:c.4211T>G
  • NM_001407859.1:c.4211T>G
  • NM_001407860.1:c.4208T>G
  • NM_001407861.1:c.4208T>G
  • NM_001407862.1:c.4010T>G
  • NM_001407863.1:c.4088T>G
  • NM_001407874.1:c.4007T>G
  • NM_001407875.1:c.4007T>G
  • NM_001407879.1:c.4001T>G
  • NM_001407881.1:c.4001T>G
  • NM_001407882.1:c.4001T>G
  • NM_001407884.1:c.4001T>G
  • NM_001407885.1:c.4001T>G
  • NM_001407886.1:c.4001T>G
  • NM_001407887.1:c.4001T>G
  • NM_001407889.1:c.4001T>G
  • NM_001407894.1:c.3998T>G
  • NM_001407895.1:c.3998T>G
  • NM_001407896.1:c.3998T>G
  • NM_001407897.1:c.3998T>G
  • NM_001407898.1:c.3998T>G
  • NM_001407899.1:c.3998T>G
  • NM_001407900.1:c.4001T>G
  • NM_001407902.1:c.4001T>G
  • NM_001407904.1:c.4001T>G
  • NM_001407906.1:c.4001T>G
  • NM_001407907.1:c.3998T>G
  • NM_001407908.1:c.3998T>G
  • NM_001407909.1:c.3998T>G
  • NM_001407910.1:c.3998T>G
  • NM_001407915.1:c.3995T>G
  • NM_001407916.1:c.3998T>G
  • NM_001407917.1:c.3998T>G
  • NM_001407918.1:c.3998T>G
  • NM_001407919.1:c.4088T>G
  • NM_001407920.1:c.3947T>G
  • NM_001407921.1:c.3947T>G
  • NM_001407922.1:c.3947T>G
  • NM_001407923.1:c.3947T>G
  • NM_001407924.1:c.3947T>G
  • NM_001407925.1:c.3947T>G
  • NM_001407926.1:c.3947T>G
  • NM_001407927.1:c.3947T>G
  • NM_001407928.1:c.3947T>G
  • NM_001407929.1:c.3947T>G
  • NM_001407930.1:c.3944T>G
  • NM_001407931.1:c.3944T>G
  • NM_001407932.1:c.3944T>G
  • NM_001407933.1:c.3944T>G
  • NM_001407934.1:c.3941T>G
  • NM_001407935.1:c.3944T>G
  • NM_001407936.1:c.3944T>G
  • NM_001407937.1:c.4088T>G
  • NM_001407938.1:c.4088T>G
  • NM_001407939.1:c.4088T>G
  • NM_001407940.1:c.4085T>G
  • NM_001407941.1:c.4085T>G
  • NM_001407942.1:c.4070T>G
  • NM_001407943.1:c.4067T>G
  • NM_001407944.1:c.4070T>G
  • NM_001407945.1:c.4070T>G
  • NM_001407946.1:c.3878T>G
  • NM_001407947.1:c.3878T>G
  • NM_001407948.1:c.3878T>G
  • NM_001407949.1:c.3878T>G
  • NM_001407950.1:c.3878T>G
  • NM_001407951.1:c.3878T>G
  • NM_001407952.1:c.3875T>G
  • NM_001407953.1:c.3875T>G
  • NM_001407954.1:c.3875T>G
  • NM_001407955.1:c.3875T>G
  • NM_001407956.1:c.3872T>G
  • NM_001407957.1:c.3875T>G
  • NM_001407958.1:c.3875T>G
  • NM_001407959.1:c.3830T>G
  • NM_001407960.1:c.3830T>G
  • NM_001407962.1:c.3827T>G
  • NM_001407963.1:c.3827T>G
  • NM_001407964.1:c.4067T>G
  • NM_001407965.1:c.3704T>G
  • NM_001407966.1:c.3323T>G
  • NM_001407967.1:c.3323T>G
  • NM_001407968.1:c.1607T>G
  • NM_001407969.1:c.1604T>G
  • NM_001407970.1:c.902T>G
  • NM_001407971.1:c.902T>G
  • NM_001407972.1:c.899T>G
  • NM_001407973.1:c.902T>G
  • NM_001407974.1:c.902T>G
  • NM_001407975.1:c.902T>G
  • NM_001407976.1:c.902T>G
  • NM_001407977.1:c.902T>G
  • NM_001407978.1:c.902T>G
  • NM_001407979.1:c.899T>G
  • NM_001407980.1:c.899T>G
  • NM_001407981.1:c.899T>G
  • NM_001407982.1:c.899T>G
  • NM_001407983.1:c.899T>G
  • NM_001407984.1:c.899T>G
  • NM_001407985.1:c.899T>G
  • NM_001407986.1:c.899T>G
  • NM_001407990.1:c.899T>G
  • NM_001407991.1:c.899T>G
  • NM_001407992.1:c.899T>G
  • NM_001407993.1:c.902T>G
  • NM_001408392.1:c.899T>G
  • NM_001408396.1:c.899T>G
  • NM_001408397.1:c.899T>G
  • NM_001408398.1:c.899T>G
  • NM_001408399.1:c.899T>G
  • NM_001408400.1:c.896T>G
  • NM_001408401.1:c.896T>G
  • NM_001408402.1:c.896T>G
  • NM_001408403.1:c.899T>G
  • NM_001408404.1:c.899T>G
  • NM_001408406.1:c.893T>G
  • NM_001408407.1:c.896T>G
  • NM_001408408.1:c.893T>G
  • NM_001408409.1:c.824T>G
  • NM_001408410.1:c.761T>G
  • NM_001408411.1:c.824T>G
  • NM_001408412.1:c.824T>G
  • NM_001408413.1:c.821T>G
  • NM_001408414.1:c.824T>G
  • NM_001408415.1:c.824T>G
  • NM_001408416.1:c.821T>G
  • NM_001408418.1:c.785T>G
  • NM_001408419.1:c.785T>G
  • NM_001408420.1:c.785T>G
  • NM_001408421.1:c.782T>G
  • NM_001408422.1:c.785T>G
  • NM_001408423.1:c.785T>G
  • NM_001408424.1:c.782T>G
  • NM_001408425.1:c.779T>G
  • NM_001408426.1:c.779T>G
  • NM_001408427.1:c.779T>G
  • NM_001408428.1:c.779T>G
  • NM_001408429.1:c.779T>G
  • NM_001408430.1:c.779T>G
  • NM_001408431.1:c.782T>G
  • NM_001408432.1:c.776T>G
  • NM_001408433.1:c.776T>G
  • NM_001408434.1:c.776T>G
  • NM_001408435.1:c.776T>G
  • NM_001408436.1:c.779T>G
  • NM_001408437.1:c.779T>G
  • NM_001408438.1:c.779T>G
  • NM_001408439.1:c.779T>G
  • NM_001408440.1:c.779T>G
  • NM_001408441.1:c.776T>G
  • NM_001408442.1:c.776T>G
  • NM_001408443.1:c.776T>G
  • NM_001408444.1:c.776T>G
  • NM_001408445.1:c.776T>G
  • NM_001408446.1:c.776T>G
  • NM_001408447.1:c.776T>G
  • NM_001408448.1:c.776T>G
  • NM_001408450.1:c.776T>G
  • NM_001408451.1:c.767T>G
  • NM_001408452.1:c.761T>G
  • NM_001408453.1:c.761T>G
  • NM_001408454.1:c.761T>G
  • NM_001408455.1:c.761T>G
  • NM_001408456.1:c.761T>G
  • NM_001408457.1:c.761T>G
  • NM_001408458.1:c.761T>G
  • NM_001408459.1:c.761T>G
  • NM_001408460.1:c.761T>G
  • NM_001408461.1:c.761T>G
  • NM_001408462.1:c.758T>G
  • NM_001408463.1:c.758T>G
  • NM_001408464.1:c.758T>G
  • NM_001408465.1:c.758T>G
  • NM_001408466.1:c.758T>G
  • NM_001408467.1:c.758T>G
  • NM_001408468.1:c.758T>G
  • NM_001408469.1:c.758T>G
  • NM_001408470.1:c.755T>G
  • NM_001408472.1:c.899T>G
  • NM_001408473.1:c.899T>G
  • NM_001408474.1:c.701T>G
  • NM_001408475.1:c.698T>G
  • NM_001408476.1:c.701T>G
  • NM_001408478.1:c.692T>G
  • NM_001408479.1:c.692T>G
  • NM_001408480.1:c.692T>G
  • NM_001408481.1:c.692T>G
  • NM_001408482.1:c.692T>G
  • NM_001408483.1:c.692T>G
  • NM_001408484.1:c.692T>G
  • NM_001408485.1:c.692T>G
  • NM_001408489.1:c.689T>G
  • NM_001408490.1:c.689T>G
  • NM_001408491.1:c.689T>G
  • NM_001408492.1:c.689T>G
  • NM_001408493.1:c.689T>G
  • NM_001408494.1:c.662T>G
  • NM_001408495.1:c.659T>G
  • NM_001408496.1:c.638T>G
  • NM_001408497.1:c.638T>G
  • NM_001408498.1:c.638T>G
  • NM_001408499.1:c.638T>G
  • NM_001408500.1:c.638T>G
  • NM_001408501.1:c.638T>G
  • NM_001408502.1:c.569T>G
  • NM_001408503.1:c.635T>G
  • NM_001408504.1:c.635T>G
  • NM_001408505.1:c.635T>G
  • NM_001408506.1:c.575T>G
  • NM_001408507.1:c.572T>G
  • NM_001408508.1:c.563T>G
  • NM_001408509.1:c.563T>G
  • NM_001408510.1:c.521T>G
  • NM_001408511.1:c.518T>G
  • NM_001408512.1:c.398T>G
  • NM_001408513.1:c.689T>G
  • NM_001408514.1:c.692T>G
  • NM_007294.4:c.4211T>GMANE SELECT
  • NM_007297.4:c.4070T>G
  • NM_007298.4:c.902T>G
  • NM_007299.4:c.902T>G
  • NM_007300.4:c.4211T>G
  • NM_007304.2:c.902T>G
  • NP_001394500.1:p.Leu1333Arg
  • NP_001394510.1:p.Leu1404Arg
  • NP_001394511.1:p.Leu1404Arg
  • NP_001394512.1:p.Leu1404Arg
  • NP_001394514.1:p.Leu1404Arg
  • NP_001394516.1:p.Leu1403Arg
  • NP_001394519.1:p.Leu1403Arg
  • NP_001394520.1:p.Leu1403Arg
  • NP_001394522.1:p.Leu1404Arg
  • NP_001394523.1:p.Leu1404Arg
  • NP_001394525.1:p.Leu1404Arg
  • NP_001394526.1:p.Leu1404Arg
  • NP_001394527.1:p.Leu1404Arg
  • NP_001394531.1:p.Leu1404Arg
  • NP_001394532.1:p.Leu1404Arg
  • NP_001394534.1:p.Leu1404Arg
  • NP_001394539.1:p.Leu1403Arg
  • NP_001394540.1:p.Leu1403Arg
  • NP_001394541.1:p.Leu1403Arg
  • NP_001394542.1:p.Leu1403Arg
  • NP_001394543.1:p.Leu1403Arg
  • NP_001394544.1:p.Leu1403Arg
  • NP_001394545.1:p.Leu1404Arg
  • NP_001394546.1:p.Leu1404Arg
  • NP_001394547.1:p.Leu1404Arg
  • NP_001394548.1:p.Leu1404Arg
  • NP_001394549.1:p.Leu1404Arg
  • NP_001394550.1:p.Leu1404Arg
  • NP_001394551.1:p.Leu1404Arg
  • NP_001394552.1:p.Leu1404Arg
  • NP_001394553.1:p.Leu1403Arg
  • NP_001394554.1:p.Leu1403Arg
  • NP_001394555.1:p.Leu1403Arg
  • NP_001394556.1:p.Leu1402Arg
  • NP_001394557.1:p.Leu1402Arg
  • NP_001394558.1:p.Leu1402Arg
  • NP_001394559.1:p.Leu1402Arg
  • NP_001394560.1:p.Leu1402Arg
  • NP_001394561.1:p.Leu1402Arg
  • NP_001394562.1:p.Leu1403Arg
  • NP_001394563.1:p.Leu1403Arg
  • NP_001394564.1:p.Leu1403Arg
  • NP_001394565.1:p.Leu1403Arg
  • NP_001394566.1:p.Leu1403Arg
  • NP_001394567.1:p.Leu1403Arg
  • NP_001394568.1:p.Leu1403Arg
  • NP_001394569.1:p.Leu1403Arg
  • NP_001394570.1:p.Leu1403Arg
  • NP_001394571.1:p.Leu1403Arg
  • NP_001394573.1:p.Leu1402Arg
  • NP_001394574.1:p.Leu1402Arg
  • NP_001394575.1:p.Leu1400Arg
  • NP_001394576.1:p.Leu1400Arg
  • NP_001394577.1:p.Leu1363Arg
  • NP_001394578.1:p.Leu1362Arg
  • NP_001394581.1:p.Leu1404Arg
  • NP_001394582.1:p.Leu1378Arg
  • NP_001394583.1:p.Leu1378Arg
  • NP_001394584.1:p.Leu1378Arg
  • NP_001394585.1:p.Leu1377Arg
  • NP_001394586.1:p.Leu1378Arg
  • NP_001394587.1:p.Leu1378Arg
  • NP_001394588.1:p.Leu1376Arg
  • NP_001394589.1:p.Leu1376Arg
  • NP_001394590.1:p.Leu1377Arg
  • NP_001394591.1:p.Leu1377Arg
  • NP_001394592.1:p.Leu1377Arg
  • NP_001394593.1:p.Leu1363Arg
  • NP_001394594.1:p.Leu1363Arg
  • NP_001394595.1:p.Leu1363Arg
  • NP_001394596.1:p.Leu1363Arg
  • NP_001394597.1:p.Leu1363Arg
  • NP_001394598.1:p.Leu1363Arg
  • NP_001394599.1:p.Leu1362Arg
  • NP_001394600.1:p.Leu1362Arg
  • NP_001394601.1:p.Leu1362Arg
  • NP_001394602.1:p.Leu1362Arg
  • NP_001394603.1:p.Leu1362Arg
  • NP_001394604.1:p.Leu1362Arg
  • NP_001394605.1:p.Leu1362Arg
  • NP_001394606.1:p.Leu1363Arg
  • NP_001394607.1:p.Leu1363Arg
  • NP_001394608.1:p.Leu1363Arg
  • NP_001394609.1:p.Leu1363Arg
  • NP_001394610.1:p.Leu1362Arg
  • NP_001394611.1:p.Leu1362Arg
  • NP_001394612.1:p.Leu1362Arg
  • NP_001394613.1:p.Leu1404Arg
  • NP_001394614.1:p.Leu1361Arg
  • NP_001394615.1:p.Leu1361Arg
  • NP_001394616.1:p.Leu1361Arg
  • NP_001394617.1:p.Leu1362Arg
  • NP_001394618.1:p.Leu1362Arg
  • NP_001394619.1:p.Leu1361Arg
  • NP_001394620.1:p.Leu1361Arg
  • NP_001394621.1:p.Leu1357Arg
  • NP_001394623.1:p.Leu1357Arg
  • NP_001394624.1:p.Leu1357Arg
  • NP_001394625.1:p.Leu1357Arg
  • NP_001394626.1:p.Leu1357Arg
  • NP_001394627.1:p.Leu1357Arg
  • NP_001394653.1:p.Leu1357Arg
  • NP_001394654.1:p.Leu1357Arg
  • NP_001394655.1:p.Leu1357Arg
  • NP_001394656.1:p.Leu1357Arg
  • NP_001394657.1:p.Leu1357Arg
  • NP_001394658.1:p.Leu1357Arg
  • NP_001394659.1:p.Leu1357Arg
  • NP_001394660.1:p.Leu1357Arg
  • NP_001394661.1:p.Leu1357Arg
  • NP_001394662.1:p.Leu1357Arg
  • NP_001394663.1:p.Leu1357Arg
  • NP_001394664.1:p.Leu1357Arg
  • NP_001394665.1:p.Leu1357Arg
  • NP_001394666.1:p.Leu1357Arg
  • NP_001394667.1:p.Leu1357Arg
  • NP_001394668.1:p.Leu1357Arg
  • NP_001394669.1:p.Leu1356Arg
  • NP_001394670.1:p.Leu1356Arg
  • NP_001394671.1:p.Leu1356Arg
  • NP_001394672.1:p.Leu1356Arg
  • NP_001394673.1:p.Leu1356Arg
  • NP_001394674.1:p.Leu1356Arg
  • NP_001394675.1:p.Leu1356Arg
  • NP_001394676.1:p.Leu1356Arg
  • NP_001394677.1:p.Leu1356Arg
  • NP_001394678.1:p.Leu1356Arg
  • NP_001394679.1:p.Leu1356Arg
  • NP_001394680.1:p.Leu1356Arg
  • NP_001394681.1:p.Leu1356Arg
  • NP_001394767.1:p.Leu1356Arg
  • NP_001394768.1:p.Leu1356Arg
  • NP_001394770.1:p.Leu1356Arg
  • NP_001394771.1:p.Leu1356Arg
  • NP_001394772.1:p.Leu1356Arg
  • NP_001394773.1:p.Leu1356Arg
  • NP_001394774.1:p.Leu1356Arg
  • NP_001394775.1:p.Leu1356Arg
  • NP_001394776.1:p.Leu1355Arg
  • NP_001394777.1:p.Leu1355Arg
  • NP_001394778.1:p.Leu1355Arg
  • NP_001394779.1:p.Leu1356Arg
  • NP_001394780.1:p.Leu1356Arg
  • NP_001394781.1:p.Leu1356Arg
  • NP_001394782.1:p.Leu1333Arg
  • NP_001394783.1:p.Leu1404Arg
  • NP_001394787.1:p.Leu1404Arg
  • NP_001394788.1:p.Leu1404Arg
  • NP_001394789.1:p.Leu1403Arg
  • NP_001394790.1:p.Leu1403Arg
  • NP_001394791.1:p.Leu1337Arg
  • NP_001394792.1:p.Leu1363Arg
  • NP_001394803.1:p.Leu1336Arg
  • NP_001394804.1:p.Leu1336Arg
  • NP_001394808.1:p.Leu1334Arg
  • NP_001394810.1:p.Leu1334Arg
  • NP_001394811.1:p.Leu1334Arg
  • NP_001394813.1:p.Leu1334Arg
  • NP_001394814.1:p.Leu1334Arg
  • NP_001394815.1:p.Leu1334Arg
  • NP_001394816.1:p.Leu1334Arg
  • NP_001394818.1:p.Leu1334Arg
  • NP_001394823.1:p.Leu1333Arg
  • NP_001394824.1:p.Leu1333Arg
  • NP_001394825.1:p.Leu1333Arg
  • NP_001394826.1:p.Leu1333Arg
  • NP_001394827.1:p.Leu1333Arg
  • NP_001394828.1:p.Leu1333Arg
  • NP_001394829.1:p.Leu1334Arg
  • NP_001394831.1:p.Leu1334Arg
  • NP_001394833.1:p.Leu1334Arg
  • NP_001394835.1:p.Leu1334Arg
  • NP_001394836.1:p.Leu1333Arg
  • NP_001394837.1:p.Leu1333Arg
  • NP_001394838.1:p.Leu1333Arg
  • NP_001394839.1:p.Leu1333Arg
  • NP_001394844.1:p.Leu1332Arg
  • NP_001394845.1:p.Leu1333Arg
  • NP_001394846.1:p.Leu1333Arg
  • NP_001394847.1:p.Leu1333Arg
  • NP_001394848.1:p.Leu1363Arg
  • NP_001394849.1:p.Leu1316Arg
  • NP_001394850.1:p.Leu1316Arg
  • NP_001394851.1:p.Leu1316Arg
  • NP_001394852.1:p.Leu1316Arg
  • NP_001394853.1:p.Leu1316Arg
  • NP_001394854.1:p.Leu1316Arg
  • NP_001394855.1:p.Leu1316Arg
  • NP_001394856.1:p.Leu1316Arg
  • NP_001394857.1:p.Leu1316Arg
  • NP_001394858.1:p.Leu1316Arg
  • NP_001394859.1:p.Leu1315Arg
  • NP_001394860.1:p.Leu1315Arg
  • NP_001394861.1:p.Leu1315Arg
  • NP_001394862.1:p.Leu1315Arg
  • NP_001394863.1:p.Leu1314Arg
  • NP_001394864.1:p.Leu1315Arg
  • NP_001394865.1:p.Leu1315Arg
  • NP_001394866.1:p.Leu1363Arg
  • NP_001394867.1:p.Leu1363Arg
  • NP_001394868.1:p.Leu1363Arg
  • NP_001394869.1:p.Leu1362Arg
  • NP_001394870.1:p.Leu1362Arg
  • NP_001394871.1:p.Leu1357Arg
  • NP_001394872.1:p.Leu1356Arg
  • NP_001394873.1:p.Leu1357Arg
  • NP_001394874.1:p.Leu1357Arg
  • NP_001394875.1:p.Leu1293Arg
  • NP_001394876.1:p.Leu1293Arg
  • NP_001394877.1:p.Leu1293Arg
  • NP_001394878.1:p.Leu1293Arg
  • NP_001394879.1:p.Leu1293Arg
  • NP_001394880.1:p.Leu1293Arg
  • NP_001394881.1:p.Leu1292Arg
  • NP_001394882.1:p.Leu1292Arg
  • NP_001394883.1:p.Leu1292Arg
  • NP_001394884.1:p.Leu1292Arg
  • NP_001394885.1:p.Leu1291Arg
  • NP_001394886.1:p.Leu1292Arg
  • NP_001394887.1:p.Leu1292Arg
  • NP_001394888.1:p.Leu1277Arg
  • NP_001394889.1:p.Leu1277Arg
  • NP_001394891.1:p.Leu1276Arg
  • NP_001394892.1:p.Leu1276Arg
  • NP_001394893.1:p.Leu1356Arg
  • NP_001394894.1:p.Leu1235Arg
  • NP_001394895.1:p.Leu1108Arg
  • NP_001394896.1:p.Leu1108Arg
  • NP_001394897.1:p.Leu536Arg
  • NP_001394898.1:p.Leu535Arg
  • NP_001394899.1:p.Leu301Arg
  • NP_001394900.1:p.Leu301Arg
  • NP_001394901.1:p.Leu300Arg
  • NP_001394902.1:p.Leu301Arg
  • NP_001394903.1:p.Leu301Arg
  • NP_001394904.1:p.Leu301Arg
  • NP_001394905.1:p.Leu301Arg
  • NP_001394906.1:p.Leu301Arg
  • NP_001394907.1:p.Leu301Arg
  • NP_001394908.1:p.Leu300Arg
  • NP_001394909.1:p.Leu300Arg
  • NP_001394910.1:p.Leu300Arg
  • NP_001394911.1:p.Leu300Arg
  • NP_001394912.1:p.Leu300Arg
  • NP_001394913.1:p.Leu300Arg
  • NP_001394914.1:p.Leu300Arg
  • NP_001394915.1:p.Leu300Arg
  • NP_001394919.1:p.Leu300Arg
  • NP_001394920.1:p.Leu300Arg
  • NP_001394921.1:p.Leu300Arg
  • NP_001394922.1:p.Leu301Arg
  • NP_001395321.1:p.Leu300Arg
  • NP_001395325.1:p.Leu300Arg
  • NP_001395326.1:p.Leu300Arg
  • NP_001395327.1:p.Leu300Arg
  • NP_001395328.1:p.Leu300Arg
  • NP_001395329.1:p.Leu299Arg
  • NP_001395330.1:p.Leu299Arg
  • NP_001395331.1:p.Leu299Arg
  • NP_001395332.1:p.Leu300Arg
  • NP_001395333.1:p.Leu300Arg
  • NP_001395335.1:p.Leu298Arg
  • NP_001395336.1:p.Leu299Arg
  • NP_001395337.1:p.Leu298Arg
  • NP_001395338.1:p.Leu275Arg
  • NP_001395339.1:p.Leu254Arg
  • NP_001395340.1:p.Leu275Arg
  • NP_001395341.1:p.Leu275Arg
  • NP_001395342.1:p.Leu274Arg
  • NP_001395343.1:p.Leu275Arg
  • NP_001395344.1:p.Leu275Arg
  • NP_001395345.1:p.Leu274Arg
  • NP_001395347.1:p.Leu262Arg
  • NP_001395348.1:p.Leu262Arg
  • NP_001395349.1:p.Leu262Arg
  • NP_001395350.1:p.Leu261Arg
  • NP_001395351.1:p.Leu262Arg
  • NP_001395352.1:p.Leu262Arg
  • NP_001395353.1:p.Leu261Arg
  • NP_001395354.1:p.Leu260Arg
  • NP_001395355.1:p.Leu260Arg
  • NP_001395356.1:p.Leu260Arg
  • NP_001395357.1:p.Leu260Arg
  • NP_001395358.1:p.Leu260Arg
  • NP_001395359.1:p.Leu260Arg
  • NP_001395360.1:p.Leu261Arg
  • NP_001395361.1:p.Leu259Arg
  • NP_001395362.1:p.Leu259Arg
  • NP_001395363.1:p.Leu259Arg
  • NP_001395364.1:p.Leu259Arg
  • NP_001395365.1:p.Leu260Arg
  • NP_001395366.1:p.Leu260Arg
  • NP_001395367.1:p.Leu260Arg
  • NP_001395368.1:p.Leu260Arg
  • NP_001395369.1:p.Leu260Arg
  • NP_001395370.1:p.Leu259Arg
  • NP_001395371.1:p.Leu259Arg
  • NP_001395372.1:p.Leu259Arg
  • NP_001395373.1:p.Leu259Arg
  • NP_001395374.1:p.Leu259Arg
  • NP_001395375.1:p.Leu259Arg
  • NP_001395376.1:p.Leu259Arg
  • NP_001395377.1:p.Leu259Arg
  • NP_001395379.1:p.Leu259Arg
  • NP_001395380.1:p.Leu256Arg
  • NP_001395381.1:p.Leu254Arg
  • NP_001395382.1:p.Leu254Arg
  • NP_001395383.1:p.Leu254Arg
  • NP_001395384.1:p.Leu254Arg
  • NP_001395385.1:p.Leu254Arg
  • NP_001395386.1:p.Leu254Arg
  • NP_001395387.1:p.Leu254Arg
  • NP_001395388.1:p.Leu254Arg
  • NP_001395389.1:p.Leu254Arg
  • NP_001395390.1:p.Leu254Arg
  • NP_001395391.1:p.Leu253Arg
  • NP_001395392.1:p.Leu253Arg
  • NP_001395393.1:p.Leu253Arg
  • NP_001395394.1:p.Leu253Arg
  • NP_001395395.1:p.Leu253Arg
  • NP_001395396.1:p.Leu253Arg
  • NP_001395397.1:p.Leu253Arg
  • NP_001395398.1:p.Leu253Arg
  • NP_001395399.1:p.Leu252Arg
  • NP_001395401.1:p.Leu300Arg
  • NP_001395402.1:p.Leu300Arg
  • NP_001395403.1:p.Leu234Arg
  • NP_001395404.1:p.Leu233Arg
  • NP_001395405.1:p.Leu234Arg
  • NP_001395407.1:p.Leu231Arg
  • NP_001395408.1:p.Leu231Arg
  • NP_001395409.1:p.Leu231Arg
  • NP_001395410.1:p.Leu231Arg
  • NP_001395411.1:p.Leu231Arg
  • NP_001395412.1:p.Leu231Arg
  • NP_001395413.1:p.Leu231Arg
  • NP_001395414.1:p.Leu231Arg
  • NP_001395418.1:p.Leu230Arg
  • NP_001395419.1:p.Leu230Arg
  • NP_001395420.1:p.Leu230Arg
  • NP_001395421.1:p.Leu230Arg
  • NP_001395422.1:p.Leu230Arg
  • NP_001395423.1:p.Leu221Arg
  • NP_001395424.1:p.Leu220Arg
  • NP_001395425.1:p.Leu213Arg
  • NP_001395426.1:p.Leu213Arg
  • NP_001395427.1:p.Leu213Arg
  • NP_001395428.1:p.Leu213Arg
  • NP_001395429.1:p.Leu213Arg
  • NP_001395430.1:p.Leu213Arg
  • NP_001395431.1:p.Leu190Arg
  • NP_001395432.1:p.Leu212Arg
  • NP_001395433.1:p.Leu212Arg
  • NP_001395434.1:p.Leu212Arg
  • NP_001395435.1:p.Leu192Arg
  • NP_001395436.1:p.Leu191Arg
  • NP_001395437.1:p.Leu188Arg
  • NP_001395438.1:p.Leu188Arg
  • NP_001395439.1:p.Leu174Arg
  • NP_001395440.1:p.Leu173Arg
  • NP_001395441.1:p.Leu133Arg
  • NP_001395442.1:p.Leu230Arg
  • NP_001395443.1:p.Leu231Arg
  • NP_009225.1:p.Leu1404Arg
  • NP_009225.1:p.Leu1404Arg
  • NP_009228.2:p.Leu1357Arg
  • NP_009229.2:p.Leu301Arg
  • NP_009229.2:p.Leu301Arg
  • NP_009230.2:p.Leu301Arg
  • NP_009231.2:p.Leu1404Arg
  • NP_009235.2:p.Leu301Arg
  • LRG_292t1:c.4211T>G
  • LRG_292:g.135434T>G
  • LRG_292p1:p.Leu1404Arg
  • NC_000017.10:g.41234567A>C
  • NM_007294.3:c.4211T>G
  • NM_007298.3:c.902T>G
  • NR_027676.2:n.4388T>G
Protein change:
L1108R
Links:
dbSNP: rs80356916
NCBI 1000 Genomes Browser:
rs80356916
Molecular consequence:
  • NM_001407571.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4205T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4205T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4205T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4205T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4205T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4205T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4205T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4205T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4199T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4199T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4133T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4133T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4133T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4133T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4133T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4127T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4127T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4130T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4082T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4082T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4082T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4082T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4082T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4064T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4064T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4064T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4208T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4010T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4007T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4007T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4001T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4001T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4001T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4001T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4001T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4001T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4001T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4001T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4001T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4001T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4001T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4001T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3995T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3998T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3947T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3944T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3944T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3944T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3944T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3941T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3944T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3944T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4088T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4085T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3878T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3878T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3878T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3878T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3878T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3878T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3875T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3875T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3875T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3875T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3872T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3875T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3875T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3830T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3830T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3827T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3827T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4067T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3704T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3323T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3323T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1607T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1604T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.902T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.902T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.902T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.902T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.902T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.902T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.902T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.902T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.902T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.896T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.896T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.896T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.893T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.896T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.893T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.824T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.761T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.824T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.824T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.821T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.824T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.824T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.821T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.785T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.785T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.785T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.782T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.785T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.785T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.782T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.779T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.779T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.779T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.779T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.779T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.779T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.782T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.776T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.776T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.776T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.776T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.779T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.779T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.779T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.779T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.779T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.776T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.776T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.776T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.776T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.776T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.776T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.776T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.776T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.776T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.767T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.761T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.761T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.761T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.761T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.761T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.761T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.761T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.761T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.761T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.761T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.758T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.758T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.758T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.758T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.758T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.758T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.758T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.758T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.755T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.899T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.701T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.698T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.701T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.692T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.692T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.692T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.692T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.692T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.692T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.692T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.692T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.689T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.689T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.689T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.689T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.689T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.662T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.659T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.638T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.638T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.638T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.638T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.638T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.638T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.569T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.635T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.635T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.635T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.575T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.572T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.563T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.563T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.521T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.518T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.398T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.689T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.692T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4070T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.902T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.902T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4211T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.902T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4388T>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
SCV001426825Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jul 27, 2020) 		germlineclinical testing

PubMed (5)
[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

BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group.

Stoppa-Lyonnet D, Laurent-Puig P, Essioux L, Pagès S, Ithier G, Ligot L, Fourquet A, Salmon RJ, Clough KB, Pouillart P, Bonaïti-Pellié C, Thomas G.

Am J Hum Genet. 1997 May;60(5):1021-30.

PubMed [citation]
PMID:
9150149
PMCID:
PMC1712430

Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations.

Wagner T, Stoppa-Lyonnet D, Fleischmann E, Muhr D, Pagès S, Sandberg T, Caux V, Moeslinger R, Langbauer G, Borg A, Oefner P.

Genomics. 1999 Dec 15;62(3):369-76.

PubMed [citation]
PMID:
10644434
See all PubMed Citations (5)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001426825.1

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

Description

Variant summary: BRCA1 c.4211T>G (p.Leu1404Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251348 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4211T>G has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Stoppa-Lyonnet_1997, Coupier_2004, Hasmad_2016, Bhaskaran_2019). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. At least one publication reports experimental evidence that a patient-derived lymphoblastoid cell line with the variant had a reduced capacity for DSB-repair, however it was not proven that the variant was responsible for this phenotype (e.g. Coupier_2004). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and cited the variant as uncertain significance. 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: Sep 29, 2024