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NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg) AND Familial cancer of breast

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002250663.2

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)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002520858Center for Precision Medicine, Meizhou People's Hospital
no assertion criteria provided
Uncertain significancegermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP, Chandratre K, Gupta H, Zhang L, Wang X, Cui J, Kim YC, Sinha S, Jiang L, Lu B, Wu X, Qin Z, Huang T, Wang SM.

Int J Cancer. 2019 Aug 15;145(4):962-973. doi: 10.1002/ijc.32176. Epub 2019 Feb 13.

PubMed [citation]
PMID:
30702160
PMCID:
PMC6617753

Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients.

Hasmad HN, Lai KN, Wen WX, Park DJ, Nguyen-Dumont T, Kang PCE, Thirthagiri E, Ma'som M, Lim BK, Southey M, Woo YL, Teo SH.

Gynecol Oncol. 2016 May;141(2):318-322. doi: 10.1016/j.ygyno.2015.11.001. Epub 2015 Nov 3.

PubMed [citation]
PMID:
26541979

Details of each submission

From Center for Precision Medicine, Meizhou People's Hospital, SCV002520858.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024