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NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 30, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001340130.5

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001533929Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 30, 2024) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
9150149
PMCID:
PMC1712430

The First Nationwide Multicenter Prevalence Study of Germline BRCA1 and BRCA2 Mutations in Chinese Ovarian Cancer Patients.

Wu X, Wu L, Kong B, Liu J, Yin R, Wen H, Li N, Bu H, Feng Y, Li Q, Lu X, Wei J, Zhu X, Mills J, Ellison G, Gutjahr T, Liu Y.

Int J Gynecol Cancer. 2017 Oct;27(8):1650-1657. doi: 10.1097/IGC.0000000000001065.

PubMed [citation]
PMID:
28692638
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001533929.4

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

Description

This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1404 of the BRCA1 protein (p.Leu1404Arg). This variant is present in population databases (rs80356916, gnomAD 0.006%). This missense change has been observed in individual(s) with personal and family histories of breast and/or ovarian cancer (PMID: 9150149, 28692638, 35918668). ClinVar contains an entry for this variant (Variation ID: 491071). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function with a negative predictive value of 95%. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 14647443). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Jun 17, 2024