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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 5, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001284545.3

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:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001470387Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Jan 5, 2021) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

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

Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations.

Coupier I, Baldeyron C, Rousseau A, Mosseri V, Pages-Berhouet S, Caux-Moncoutier V, Papadopoulo D, Stoppa-Lyonnet D.

Oncogene. 2004 Jan 29;23(4):914-9.

PubMed [citation]
PMID:
14647443
See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470387.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024