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NM_007294.4(BRCA1):c.4175T>C (p.Leu1392Ser) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 3, 2023
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:
RCV000701502.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.4175T>C (p.Leu1392Ser)]

NM_007294.4(BRCA1):c.4175T>C (p.Leu1392Ser)

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.4175T>C (p.Leu1392Ser)
HGVS:
  • NC_000017.11:g.43090954A>G
  • NG_005905.2:g.127030T>C
  • NM_001407571.1:c.3962T>C
  • NM_001407581.1:c.4175T>C
  • NM_001407582.1:c.4175T>C
  • NM_001407583.1:c.4175T>C
  • NM_001407585.1:c.4175T>C
  • NM_001407587.1:c.4172T>C
  • NM_001407590.1:c.4172T>C
  • NM_001407591.1:c.4172T>C
  • NM_001407593.1:c.4175T>C
  • NM_001407594.1:c.4175T>C
  • NM_001407596.1:c.4175T>C
  • NM_001407597.1:c.4175T>C
  • NM_001407598.1:c.4175T>C
  • NM_001407602.1:c.4175T>C
  • NM_001407603.1:c.4175T>C
  • NM_001407605.1:c.4175T>C
  • NM_001407610.1:c.4172T>C
  • NM_001407611.1:c.4172T>C
  • NM_001407612.1:c.4172T>C
  • NM_001407613.1:c.4172T>C
  • NM_001407614.1:c.4172T>C
  • NM_001407615.1:c.4172T>C
  • NM_001407616.1:c.4175T>C
  • NM_001407617.1:c.4175T>C
  • NM_001407618.1:c.4175T>C
  • NM_001407619.1:c.4175T>C
  • NM_001407620.1:c.4175T>C
  • NM_001407621.1:c.4175T>C
  • NM_001407622.1:c.4175T>C
  • NM_001407623.1:c.4175T>C
  • NM_001407624.1:c.4175T>C
  • NM_001407625.1:c.4175T>C
  • NM_001407626.1:c.4175T>C
  • NM_001407627.1:c.4172T>C
  • NM_001407628.1:c.4172T>C
  • NM_001407629.1:c.4172T>C
  • NM_001407630.1:c.4172T>C
  • NM_001407631.1:c.4172T>C
  • NM_001407632.1:c.4172T>C
  • NM_001407633.1:c.4172T>C
  • NM_001407634.1:c.4172T>C
  • NM_001407635.1:c.4172T>C
  • NM_001407636.1:c.4172T>C
  • NM_001407637.1:c.4172T>C
  • NM_001407638.1:c.4172T>C
  • NM_001407639.1:c.4175T>C
  • NM_001407640.1:c.4175T>C
  • NM_001407641.1:c.4175T>C
  • NM_001407642.1:c.4175T>C
  • NM_001407644.1:c.4172T>C
  • NM_001407645.1:c.4172T>C
  • NM_001407646.1:c.4166T>C
  • NM_001407647.1:c.4166T>C
  • NM_001407648.1:c.4052T>C
  • NM_001407649.1:c.4049T>C
  • NM_001407652.1:c.4175T>C
  • NM_001407653.1:c.4097T>C
  • NM_001407654.1:c.4097T>C
  • NM_001407655.1:c.4097T>C
  • NM_001407656.1:c.4097T>C
  • NM_001407657.1:c.4097T>C
  • NM_001407658.1:c.4097T>C
  • NM_001407659.1:c.4094T>C
  • NM_001407660.1:c.4094T>C
  • NM_001407661.1:c.4094T>C
  • NM_001407662.1:c.4094T>C
  • NM_001407663.1:c.4097T>C
  • NM_001407664.1:c.4052T>C
  • NM_001407665.1:c.4052T>C
  • NM_001407666.1:c.4052T>C
  • NM_001407667.1:c.4052T>C
  • NM_001407668.1:c.4052T>C
  • NM_001407669.1:c.4052T>C
  • NM_001407670.1:c.4049T>C
  • NM_001407671.1:c.4049T>C
  • NM_001407672.1:c.4049T>C
  • NM_001407673.1:c.4049T>C
  • NM_001407674.1:c.4052T>C
  • NM_001407675.1:c.4052T>C
  • NM_001407676.1:c.4052T>C
  • NM_001407677.1:c.4052T>C
  • NM_001407678.1:c.4052T>C
  • NM_001407679.1:c.4052T>C
  • NM_001407680.1:c.4052T>C
  • NM_001407681.1:c.4052T>C
  • NM_001407682.1:c.4052T>C
  • NM_001407683.1:c.4052T>C
  • NM_001407684.1:c.4175T>C
  • NM_001407685.1:c.4049T>C
  • NM_001407686.1:c.4049T>C
  • NM_001407687.1:c.4049T>C
  • NM_001407688.1:c.4049T>C
  • NM_001407689.1:c.4049T>C
  • NM_001407690.1:c.4049T>C
  • NM_001407691.1:c.4049T>C
  • NM_001407692.1:c.4034T>C
  • NM_001407694.1:c.4034T>C
  • NM_001407695.1:c.4034T>C
  • NM_001407696.1:c.4034T>C
  • NM_001407697.1:c.4034T>C
  • NM_001407698.1:c.4034T>C
  • NM_001407724.1:c.4034T>C
  • NM_001407725.1:c.4034T>C
  • NM_001407726.1:c.4034T>C
  • NM_001407727.1:c.4034T>C
  • NM_001407728.1:c.4034T>C
  • NM_001407729.1:c.4034T>C
  • NM_001407730.1:c.4034T>C
  • NM_001407731.1:c.4034T>C
  • NM_001407732.1:c.4034T>C
  • NM_001407733.1:c.4034T>C
  • NM_001407734.1:c.4034T>C
  • NM_001407735.1:c.4034T>C
  • NM_001407736.1:c.4034T>C
  • NM_001407737.1:c.4034T>C
  • NM_001407738.1:c.4034T>C
  • NM_001407739.1:c.4034T>C
  • NM_001407740.1:c.4031T>C
  • NM_001407741.1:c.4031T>C
  • NM_001407742.1:c.4031T>C
  • NM_001407743.1:c.4031T>C
  • NM_001407744.1:c.4031T>C
  • NM_001407745.1:c.4031T>C
  • NM_001407746.1:c.4031T>C
  • NM_001407747.1:c.4031T>C
  • NM_001407748.1:c.4031T>C
  • NM_001407749.1:c.4031T>C
  • NM_001407750.1:c.4034T>C
  • NM_001407751.1:c.4034T>C
  • NM_001407752.1:c.4034T>C
  • NM_001407838.1:c.4031T>C
  • NM_001407839.1:c.4031T>C
  • NM_001407841.1:c.4031T>C
  • NM_001407842.1:c.4031T>C
  • NM_001407843.1:c.4031T>C
  • NM_001407844.1:c.4031T>C
  • NM_001407845.1:c.4031T>C
  • NM_001407846.1:c.4031T>C
  • NM_001407847.1:c.4031T>C
  • NM_001407848.1:c.4031T>C
  • NM_001407849.1:c.4031T>C
  • NM_001407850.1:c.4034T>C
  • NM_001407851.1:c.4034T>C
  • NM_001407852.1:c.4034T>C
  • NM_001407853.1:c.3962T>C
  • NM_001407854.1:c.4175T>C
  • NM_001407858.1:c.4175T>C
  • NM_001407859.1:c.4175T>C
  • NM_001407860.1:c.4172T>C
  • NM_001407861.1:c.4172T>C
  • NM_001407862.1:c.3974T>C
  • NM_001407863.1:c.4052T>C
  • NM_001407874.1:c.3971T>C
  • NM_001407875.1:c.3971T>C
  • NM_001407879.1:c.3965T>C
  • NM_001407881.1:c.3965T>C
  • NM_001407882.1:c.3965T>C
  • NM_001407884.1:c.3965T>C
  • NM_001407885.1:c.3965T>C
  • NM_001407886.1:c.3965T>C
  • NM_001407887.1:c.3965T>C
  • NM_001407889.1:c.3965T>C
  • NM_001407894.1:c.3962T>C
  • NM_001407895.1:c.3962T>C
  • NM_001407896.1:c.3962T>C
  • NM_001407897.1:c.3962T>C
  • NM_001407898.1:c.3962T>C
  • NM_001407899.1:c.3962T>C
  • NM_001407900.1:c.3965T>C
  • NM_001407902.1:c.3965T>C
  • NM_001407904.1:c.3965T>C
  • NM_001407906.1:c.3965T>C
  • NM_001407907.1:c.3965T>C
  • NM_001407908.1:c.3965T>C
  • NM_001407909.1:c.3965T>C
  • NM_001407910.1:c.3965T>C
  • NM_001407915.1:c.3962T>C
  • NM_001407916.1:c.3962T>C
  • NM_001407917.1:c.3962T>C
  • NM_001407918.1:c.3962T>C
  • NM_001407919.1:c.4052T>C
  • NM_001407920.1:c.3911T>C
  • NM_001407921.1:c.3911T>C
  • NM_001407922.1:c.3911T>C
  • NM_001407923.1:c.3911T>C
  • NM_001407924.1:c.3911T>C
  • NM_001407925.1:c.3911T>C
  • NM_001407926.1:c.3911T>C
  • NM_001407927.1:c.3911T>C
  • NM_001407928.1:c.3911T>C
  • NM_001407929.1:c.3911T>C
  • NM_001407930.1:c.3908T>C
  • NM_001407931.1:c.3908T>C
  • NM_001407932.1:c.3908T>C
  • NM_001407933.1:c.3911T>C
  • NM_001407934.1:c.3908T>C
  • NM_001407935.1:c.3911T>C
  • NM_001407936.1:c.3908T>C
  • NM_001407937.1:c.4052T>C
  • NM_001407938.1:c.4052T>C
  • NM_001407939.1:c.4052T>C
  • NM_001407940.1:c.4049T>C
  • NM_001407941.1:c.4049T>C
  • NM_001407942.1:c.4034T>C
  • NM_001407943.1:c.4031T>C
  • NM_001407944.1:c.4034T>C
  • NM_001407945.1:c.4034T>C
  • NM_001407946.1:c.3842T>C
  • NM_001407947.1:c.3842T>C
  • NM_001407948.1:c.3842T>C
  • NM_001407949.1:c.3842T>C
  • NM_001407950.1:c.3842T>C
  • NM_001407951.1:c.3842T>C
  • NM_001407952.1:c.3842T>C
  • NM_001407953.1:c.3842T>C
  • NM_001407954.1:c.3839T>C
  • NM_001407955.1:c.3839T>C
  • NM_001407956.1:c.3839T>C
  • NM_001407957.1:c.3842T>C
  • NM_001407958.1:c.3839T>C
  • NM_001407959.1:c.3794T>C
  • NM_001407960.1:c.3794T>C
  • NM_001407962.1:c.3791T>C
  • NM_001407963.1:c.3794T>C
  • NM_001407964.1:c.4031T>C
  • NM_001407965.1:c.3671T>C
  • NM_001407966.1:c.3287T>C
  • NM_001407967.1:c.3287T>C
  • NM_001407968.1:c.1571T>C
  • NM_001407969.1:c.1571T>C
  • NM_001407970.1:c.866T>C
  • NM_001407971.1:c.866T>C
  • NM_001407972.1:c.863T>C
  • NM_001407973.1:c.866T>C
  • NM_001407974.1:c.866T>C
  • NM_001407975.1:c.866T>C
  • NM_001407976.1:c.866T>C
  • NM_001407977.1:c.866T>C
  • NM_001407978.1:c.866T>C
  • NM_001407979.1:c.866T>C
  • NM_001407980.1:c.866T>C
  • NM_001407981.1:c.866T>C
  • NM_001407982.1:c.866T>C
  • NM_001407983.1:c.866T>C
  • NM_001407984.1:c.863T>C
  • NM_001407985.1:c.863T>C
  • NM_001407986.1:c.863T>C
  • NM_001407990.1:c.866T>C
  • NM_001407991.1:c.863T>C
  • NM_001407992.1:c.863T>C
  • NM_001407993.1:c.866T>C
  • NM_001408392.1:c.863T>C
  • NM_001408396.1:c.863T>C
  • NM_001408397.1:c.863T>C
  • NM_001408398.1:c.863T>C
  • NM_001408399.1:c.863T>C
  • NM_001408400.1:c.863T>C
  • NM_001408401.1:c.863T>C
  • NM_001408402.1:c.863T>C
  • NM_001408403.1:c.866T>C
  • NM_001408404.1:c.866T>C
  • NM_001408406.1:c.860T>C
  • NM_001408407.1:c.863T>C
  • NM_001408408.1:c.857T>C
  • NM_001408409.1:c.788T>C
  • NM_001408410.1:c.725T>C
  • NM_001408411.1:c.788T>C
  • NM_001408412.1:c.788T>C
  • NM_001408413.1:c.785T>C
  • NM_001408414.1:c.788T>C
  • NM_001408415.1:c.788T>C
  • NM_001408416.1:c.785T>C
  • NM_001408418.1:c.749T>C
  • NM_001408419.1:c.749T>C
  • NM_001408420.1:c.749T>C
  • NM_001408421.1:c.746T>C
  • NM_001408422.1:c.749T>C
  • NM_001408423.1:c.749T>C
  • NM_001408424.1:c.746T>C
  • NM_001408425.1:c.743T>C
  • NM_001408426.1:c.743T>C
  • NM_001408427.1:c.743T>C
  • NM_001408428.1:c.743T>C
  • NM_001408429.1:c.743T>C
  • NM_001408430.1:c.743T>C
  • NM_001408431.1:c.746T>C
  • NM_001408432.1:c.740T>C
  • NM_001408433.1:c.740T>C
  • NM_001408434.1:c.740T>C
  • NM_001408435.1:c.740T>C
  • NM_001408436.1:c.743T>C
  • NM_001408437.1:c.743T>C
  • NM_001408438.1:c.743T>C
  • NM_001408439.1:c.743T>C
  • NM_001408440.1:c.743T>C
  • NM_001408441.1:c.743T>C
  • NM_001408442.1:c.743T>C
  • NM_001408443.1:c.743T>C
  • NM_001408444.1:c.743T>C
  • NM_001408445.1:c.740T>C
  • NM_001408446.1:c.740T>C
  • NM_001408447.1:c.740T>C
  • NM_001408448.1:c.740T>C
  • NM_001408450.1:c.740T>C
  • NM_001408451.1:c.731T>C
  • NM_001408452.1:c.725T>C
  • NM_001408453.1:c.725T>C
  • NM_001408454.1:c.725T>C
  • NM_001408455.1:c.725T>C
  • NM_001408456.1:c.725T>C
  • NM_001408457.1:c.725T>C
  • NM_001408458.1:c.725T>C
  • NM_001408459.1:c.725T>C
  • NM_001408460.1:c.725T>C
  • NM_001408461.1:c.725T>C
  • NM_001408462.1:c.722T>C
  • NM_001408463.1:c.722T>C
  • NM_001408464.1:c.722T>C
  • NM_001408465.1:c.722T>C
  • NM_001408466.1:c.725T>C
  • NM_001408467.1:c.725T>C
  • NM_001408468.1:c.722T>C
  • NM_001408469.1:c.725T>C
  • NM_001408470.1:c.722T>C
  • NM_001408472.1:c.866T>C
  • NM_001408473.1:c.863T>C
  • NM_001408474.1:c.665T>C
  • NM_001408475.1:c.662T>C
  • NM_001408476.1:c.665T>C
  • NM_001408478.1:c.656T>C
  • NM_001408479.1:c.656T>C
  • NM_001408480.1:c.656T>C
  • NM_001408481.1:c.656T>C
  • NM_001408482.1:c.656T>C
  • NM_001408483.1:c.656T>C
  • NM_001408484.1:c.656T>C
  • NM_001408485.1:c.656T>C
  • NM_001408489.1:c.656T>C
  • NM_001408490.1:c.653T>C
  • NM_001408491.1:c.653T>C
  • NM_001408492.1:c.656T>C
  • NM_001408493.1:c.653T>C
  • NM_001408494.1:c.626T>C
  • NM_001408495.1:c.623T>C
  • NM_001408496.1:c.602T>C
  • NM_001408497.1:c.602T>C
  • NM_001408498.1:c.602T>C
  • NM_001408499.1:c.602T>C
  • NM_001408500.1:c.602T>C
  • NM_001408501.1:c.602T>C
  • NM_001408502.1:c.533T>C
  • NM_001408503.1:c.599T>C
  • NM_001408504.1:c.599T>C
  • NM_001408505.1:c.599T>C
  • NM_001408506.1:c.539T>C
  • NM_001408507.1:c.539T>C
  • NM_001408508.1:c.530T>C
  • NM_001408509.1:c.530T>C
  • NM_001408510.1:c.485T>C
  • NM_001408511.1:c.482T>C
  • NM_001408512.1:c.362T>C
  • NM_001408513.1:c.656T>C
  • NM_001408514.1:c.656T>C
  • NM_007294.4:c.4175T>CMANE SELECT
  • NM_007297.4:c.4034T>C
  • NM_007298.4:c.866T>C
  • NM_007299.4:c.866T>C
  • NM_007300.4:c.4175T>C
  • NM_007304.2:c.866T>C
  • NP_001394500.1:p.Leu1321Ser
  • NP_001394510.1:p.Leu1392Ser
  • NP_001394511.1:p.Leu1392Ser
  • NP_001394512.1:p.Leu1392Ser
  • NP_001394514.1:p.Leu1392Ser
  • NP_001394516.1:p.Leu1391Ser
  • NP_001394519.1:p.Leu1391Ser
  • NP_001394520.1:p.Leu1391Ser
  • NP_001394522.1:p.Leu1392Ser
  • NP_001394523.1:p.Leu1392Ser
  • NP_001394525.1:p.Leu1392Ser
  • NP_001394526.1:p.Leu1392Ser
  • NP_001394527.1:p.Leu1392Ser
  • NP_001394531.1:p.Leu1392Ser
  • NP_001394532.1:p.Leu1392Ser
  • NP_001394534.1:p.Leu1392Ser
  • NP_001394539.1:p.Leu1391Ser
  • NP_001394540.1:p.Leu1391Ser
  • NP_001394541.1:p.Leu1391Ser
  • NP_001394542.1:p.Leu1391Ser
  • NP_001394543.1:p.Leu1391Ser
  • NP_001394544.1:p.Leu1391Ser
  • NP_001394545.1:p.Leu1392Ser
  • NP_001394546.1:p.Leu1392Ser
  • NP_001394547.1:p.Leu1392Ser
  • NP_001394548.1:p.Leu1392Ser
  • NP_001394549.1:p.Leu1392Ser
  • NP_001394550.1:p.Leu1392Ser
  • NP_001394551.1:p.Leu1392Ser
  • NP_001394552.1:p.Leu1392Ser
  • NP_001394553.1:p.Leu1392Ser
  • NP_001394554.1:p.Leu1392Ser
  • NP_001394555.1:p.Leu1392Ser
  • NP_001394556.1:p.Leu1391Ser
  • NP_001394557.1:p.Leu1391Ser
  • NP_001394558.1:p.Leu1391Ser
  • NP_001394559.1:p.Leu1391Ser
  • NP_001394560.1:p.Leu1391Ser
  • NP_001394561.1:p.Leu1391Ser
  • NP_001394562.1:p.Leu1391Ser
  • NP_001394563.1:p.Leu1391Ser
  • NP_001394564.1:p.Leu1391Ser
  • NP_001394565.1:p.Leu1391Ser
  • NP_001394566.1:p.Leu1391Ser
  • NP_001394567.1:p.Leu1391Ser
  • NP_001394568.1:p.Leu1392Ser
  • NP_001394569.1:p.Leu1392Ser
  • NP_001394570.1:p.Leu1392Ser
  • NP_001394571.1:p.Leu1392Ser
  • NP_001394573.1:p.Leu1391Ser
  • NP_001394574.1:p.Leu1391Ser
  • NP_001394575.1:p.Leu1389Ser
  • NP_001394576.1:p.Leu1389Ser
  • NP_001394577.1:p.Leu1351Ser
  • NP_001394578.1:p.Leu1350Ser
  • NP_001394581.1:p.Leu1392Ser
  • NP_001394582.1:p.Leu1366Ser
  • NP_001394583.1:p.Leu1366Ser
  • NP_001394584.1:p.Leu1366Ser
  • NP_001394585.1:p.Leu1366Ser
  • NP_001394586.1:p.Leu1366Ser
  • NP_001394587.1:p.Leu1366Ser
  • NP_001394588.1:p.Leu1365Ser
  • NP_001394589.1:p.Leu1365Ser
  • NP_001394590.1:p.Leu1365Ser
  • NP_001394591.1:p.Leu1365Ser
  • NP_001394592.1:p.Leu1366Ser
  • NP_001394593.1:p.Leu1351Ser
  • NP_001394594.1:p.Leu1351Ser
  • NP_001394595.1:p.Leu1351Ser
  • NP_001394596.1:p.Leu1351Ser
  • NP_001394597.1:p.Leu1351Ser
  • NP_001394598.1:p.Leu1351Ser
  • NP_001394599.1:p.Leu1350Ser
  • NP_001394600.1:p.Leu1350Ser
  • NP_001394601.1:p.Leu1350Ser
  • NP_001394602.1:p.Leu1350Ser
  • NP_001394603.1:p.Leu1351Ser
  • NP_001394604.1:p.Leu1351Ser
  • NP_001394605.1:p.Leu1351Ser
  • NP_001394606.1:p.Leu1351Ser
  • NP_001394607.1:p.Leu1351Ser
  • NP_001394608.1:p.Leu1351Ser
  • NP_001394609.1:p.Leu1351Ser
  • NP_001394610.1:p.Leu1351Ser
  • NP_001394611.1:p.Leu1351Ser
  • NP_001394612.1:p.Leu1351Ser
  • NP_001394613.1:p.Leu1392Ser
  • NP_001394614.1:p.Leu1350Ser
  • NP_001394615.1:p.Leu1350Ser
  • NP_001394616.1:p.Leu1350Ser
  • NP_001394617.1:p.Leu1350Ser
  • NP_001394618.1:p.Leu1350Ser
  • NP_001394619.1:p.Leu1350Ser
  • NP_001394620.1:p.Leu1350Ser
  • NP_001394621.1:p.Leu1345Ser
  • NP_001394623.1:p.Leu1345Ser
  • NP_001394624.1:p.Leu1345Ser
  • NP_001394625.1:p.Leu1345Ser
  • NP_001394626.1:p.Leu1345Ser
  • NP_001394627.1:p.Leu1345Ser
  • NP_001394653.1:p.Leu1345Ser
  • NP_001394654.1:p.Leu1345Ser
  • NP_001394655.1:p.Leu1345Ser
  • NP_001394656.1:p.Leu1345Ser
  • NP_001394657.1:p.Leu1345Ser
  • NP_001394658.1:p.Leu1345Ser
  • NP_001394659.1:p.Leu1345Ser
  • NP_001394660.1:p.Leu1345Ser
  • NP_001394661.1:p.Leu1345Ser
  • NP_001394662.1:p.Leu1345Ser
  • NP_001394663.1:p.Leu1345Ser
  • NP_001394664.1:p.Leu1345Ser
  • NP_001394665.1:p.Leu1345Ser
  • NP_001394666.1:p.Leu1345Ser
  • NP_001394667.1:p.Leu1345Ser
  • NP_001394668.1:p.Leu1345Ser
  • NP_001394669.1:p.Leu1344Ser
  • NP_001394670.1:p.Leu1344Ser
  • NP_001394671.1:p.Leu1344Ser
  • NP_001394672.1:p.Leu1344Ser
  • NP_001394673.1:p.Leu1344Ser
  • NP_001394674.1:p.Leu1344Ser
  • NP_001394675.1:p.Leu1344Ser
  • NP_001394676.1:p.Leu1344Ser
  • NP_001394677.1:p.Leu1344Ser
  • NP_001394678.1:p.Leu1344Ser
  • NP_001394679.1:p.Leu1345Ser
  • NP_001394680.1:p.Leu1345Ser
  • NP_001394681.1:p.Leu1345Ser
  • NP_001394767.1:p.Leu1344Ser
  • NP_001394768.1:p.Leu1344Ser
  • NP_001394770.1:p.Leu1344Ser
  • NP_001394771.1:p.Leu1344Ser
  • NP_001394772.1:p.Leu1344Ser
  • NP_001394773.1:p.Leu1344Ser
  • NP_001394774.1:p.Leu1344Ser
  • NP_001394775.1:p.Leu1344Ser
  • NP_001394776.1:p.Leu1344Ser
  • NP_001394777.1:p.Leu1344Ser
  • NP_001394778.1:p.Leu1344Ser
  • NP_001394779.1:p.Leu1345Ser
  • NP_001394780.1:p.Leu1345Ser
  • NP_001394781.1:p.Leu1345Ser
  • NP_001394782.1:p.Leu1321Ser
  • NP_001394783.1:p.Leu1392Ser
  • NP_001394787.1:p.Leu1392Ser
  • NP_001394788.1:p.Leu1392Ser
  • NP_001394789.1:p.Leu1391Ser
  • NP_001394790.1:p.Leu1391Ser
  • NP_001394791.1:p.Leu1325Ser
  • NP_001394792.1:p.Leu1351Ser
  • NP_001394803.1:p.Leu1324Ser
  • NP_001394804.1:p.Leu1324Ser
  • NP_001394808.1:p.Leu1322Ser
  • NP_001394810.1:p.Leu1322Ser
  • NP_001394811.1:p.Leu1322Ser
  • NP_001394813.1:p.Leu1322Ser
  • NP_001394814.1:p.Leu1322Ser
  • NP_001394815.1:p.Leu1322Ser
  • NP_001394816.1:p.Leu1322Ser
  • NP_001394818.1:p.Leu1322Ser
  • NP_001394823.1:p.Leu1321Ser
  • NP_001394824.1:p.Leu1321Ser
  • NP_001394825.1:p.Leu1321Ser
  • NP_001394826.1:p.Leu1321Ser
  • NP_001394827.1:p.Leu1321Ser
  • NP_001394828.1:p.Leu1321Ser
  • NP_001394829.1:p.Leu1322Ser
  • NP_001394831.1:p.Leu1322Ser
  • NP_001394833.1:p.Leu1322Ser
  • NP_001394835.1:p.Leu1322Ser
  • NP_001394836.1:p.Leu1322Ser
  • NP_001394837.1:p.Leu1322Ser
  • NP_001394838.1:p.Leu1322Ser
  • NP_001394839.1:p.Leu1322Ser
  • NP_001394844.1:p.Leu1321Ser
  • NP_001394845.1:p.Leu1321Ser
  • NP_001394846.1:p.Leu1321Ser
  • NP_001394847.1:p.Leu1321Ser
  • NP_001394848.1:p.Leu1351Ser
  • NP_001394849.1:p.Leu1304Ser
  • NP_001394850.1:p.Leu1304Ser
  • NP_001394851.1:p.Leu1304Ser
  • NP_001394852.1:p.Leu1304Ser
  • NP_001394853.1:p.Leu1304Ser
  • NP_001394854.1:p.Leu1304Ser
  • NP_001394855.1:p.Leu1304Ser
  • NP_001394856.1:p.Leu1304Ser
  • NP_001394857.1:p.Leu1304Ser
  • NP_001394858.1:p.Leu1304Ser
  • NP_001394859.1:p.Leu1303Ser
  • NP_001394860.1:p.Leu1303Ser
  • NP_001394861.1:p.Leu1303Ser
  • NP_001394862.1:p.Leu1304Ser
  • NP_001394863.1:p.Leu1303Ser
  • NP_001394864.1:p.Leu1304Ser
  • NP_001394865.1:p.Leu1303Ser
  • NP_001394866.1:p.Leu1351Ser
  • NP_001394867.1:p.Leu1351Ser
  • NP_001394868.1:p.Leu1351Ser
  • NP_001394869.1:p.Leu1350Ser
  • NP_001394870.1:p.Leu1350Ser
  • NP_001394871.1:p.Leu1345Ser
  • NP_001394872.1:p.Leu1344Ser
  • NP_001394873.1:p.Leu1345Ser
  • NP_001394874.1:p.Leu1345Ser
  • NP_001394875.1:p.Leu1281Ser
  • NP_001394876.1:p.Leu1281Ser
  • NP_001394877.1:p.Leu1281Ser
  • NP_001394878.1:p.Leu1281Ser
  • NP_001394879.1:p.Leu1281Ser
  • NP_001394880.1:p.Leu1281Ser
  • NP_001394881.1:p.Leu1281Ser
  • NP_001394882.1:p.Leu1281Ser
  • NP_001394883.1:p.Leu1280Ser
  • NP_001394884.1:p.Leu1280Ser
  • NP_001394885.1:p.Leu1280Ser
  • NP_001394886.1:p.Leu1281Ser
  • NP_001394887.1:p.Leu1280Ser
  • NP_001394888.1:p.Leu1265Ser
  • NP_001394889.1:p.Leu1265Ser
  • NP_001394891.1:p.Leu1264Ser
  • NP_001394892.1:p.Leu1265Ser
  • NP_001394893.1:p.Leu1344Ser
  • NP_001394894.1:p.Leu1224Ser
  • NP_001394895.1:p.Leu1096Ser
  • NP_001394896.1:p.Leu1096Ser
  • NP_001394897.1:p.Leu524Ser
  • NP_001394898.1:p.Leu524Ser
  • NP_001394899.1:p.Leu289Ser
  • NP_001394900.1:p.Leu289Ser
  • NP_001394901.1:p.Leu288Ser
  • NP_001394902.1:p.Leu289Ser
  • NP_001394903.1:p.Leu289Ser
  • NP_001394904.1:p.Leu289Ser
  • NP_001394905.1:p.Leu289Ser
  • NP_001394906.1:p.Leu289Ser
  • NP_001394907.1:p.Leu289Ser
  • NP_001394908.1:p.Leu289Ser
  • NP_001394909.1:p.Leu289Ser
  • NP_001394910.1:p.Leu289Ser
  • NP_001394911.1:p.Leu289Ser
  • NP_001394912.1:p.Leu289Ser
  • NP_001394913.1:p.Leu288Ser
  • NP_001394914.1:p.Leu288Ser
  • NP_001394915.1:p.Leu288Ser
  • NP_001394919.1:p.Leu289Ser
  • NP_001394920.1:p.Leu288Ser
  • NP_001394921.1:p.Leu288Ser
  • NP_001394922.1:p.Leu289Ser
  • NP_001395321.1:p.Leu288Ser
  • NP_001395325.1:p.Leu288Ser
  • NP_001395326.1:p.Leu288Ser
  • NP_001395327.1:p.Leu288Ser
  • NP_001395328.1:p.Leu288Ser
  • NP_001395329.1:p.Leu288Ser
  • NP_001395330.1:p.Leu288Ser
  • NP_001395331.1:p.Leu288Ser
  • NP_001395332.1:p.Leu289Ser
  • NP_001395333.1:p.Leu289Ser
  • NP_001395335.1:p.Leu287Ser
  • NP_001395336.1:p.Leu288Ser
  • NP_001395337.1:p.Leu286Ser
  • NP_001395338.1:p.Leu263Ser
  • NP_001395339.1:p.Leu242Ser
  • NP_001395340.1:p.Leu263Ser
  • NP_001395341.1:p.Leu263Ser
  • NP_001395342.1:p.Leu262Ser
  • NP_001395343.1:p.Leu263Ser
  • NP_001395344.1:p.Leu263Ser
  • NP_001395345.1:p.Leu262Ser
  • NP_001395347.1:p.Leu250Ser
  • NP_001395348.1:p.Leu250Ser
  • NP_001395349.1:p.Leu250Ser
  • NP_001395350.1:p.Leu249Ser
  • NP_001395351.1:p.Leu250Ser
  • NP_001395352.1:p.Leu250Ser
  • NP_001395353.1:p.Leu249Ser
  • NP_001395354.1:p.Leu248Ser
  • NP_001395355.1:p.Leu248Ser
  • NP_001395356.1:p.Leu248Ser
  • NP_001395357.1:p.Leu248Ser
  • NP_001395358.1:p.Leu248Ser
  • NP_001395359.1:p.Leu248Ser
  • NP_001395360.1:p.Leu249Ser
  • NP_001395361.1:p.Leu247Ser
  • NP_001395362.1:p.Leu247Ser
  • NP_001395363.1:p.Leu247Ser
  • NP_001395364.1:p.Leu247Ser
  • NP_001395365.1:p.Leu248Ser
  • NP_001395366.1:p.Leu248Ser
  • NP_001395367.1:p.Leu248Ser
  • NP_001395368.1:p.Leu248Ser
  • NP_001395369.1:p.Leu248Ser
  • NP_001395370.1:p.Leu248Ser
  • NP_001395371.1:p.Leu248Ser
  • NP_001395372.1:p.Leu248Ser
  • NP_001395373.1:p.Leu248Ser
  • NP_001395374.1:p.Leu247Ser
  • NP_001395375.1:p.Leu247Ser
  • NP_001395376.1:p.Leu247Ser
  • NP_001395377.1:p.Leu247Ser
  • NP_001395379.1:p.Leu247Ser
  • NP_001395380.1:p.Leu244Ser
  • NP_001395381.1:p.Leu242Ser
  • NP_001395382.1:p.Leu242Ser
  • NP_001395383.1:p.Leu242Ser
  • NP_001395384.1:p.Leu242Ser
  • NP_001395385.1:p.Leu242Ser
  • NP_001395386.1:p.Leu242Ser
  • NP_001395387.1:p.Leu242Ser
  • NP_001395388.1:p.Leu242Ser
  • NP_001395389.1:p.Leu242Ser
  • NP_001395390.1:p.Leu242Ser
  • NP_001395391.1:p.Leu241Ser
  • NP_001395392.1:p.Leu241Ser
  • NP_001395393.1:p.Leu241Ser
  • NP_001395394.1:p.Leu241Ser
  • NP_001395395.1:p.Leu242Ser
  • NP_001395396.1:p.Leu242Ser
  • NP_001395397.1:p.Leu241Ser
  • NP_001395398.1:p.Leu242Ser
  • NP_001395399.1:p.Leu241Ser
  • NP_001395401.1:p.Leu289Ser
  • NP_001395402.1:p.Leu288Ser
  • NP_001395403.1:p.Leu222Ser
  • NP_001395404.1:p.Leu221Ser
  • NP_001395405.1:p.Leu222Ser
  • NP_001395407.1:p.Leu219Ser
  • NP_001395408.1:p.Leu219Ser
  • NP_001395409.1:p.Leu219Ser
  • NP_001395410.1:p.Leu219Ser
  • NP_001395411.1:p.Leu219Ser
  • NP_001395412.1:p.Leu219Ser
  • NP_001395413.1:p.Leu219Ser
  • NP_001395414.1:p.Leu219Ser
  • NP_001395418.1:p.Leu219Ser
  • NP_001395419.1:p.Leu218Ser
  • NP_001395420.1:p.Leu218Ser
  • NP_001395421.1:p.Leu219Ser
  • NP_001395422.1:p.Leu218Ser
  • NP_001395423.1:p.Leu209Ser
  • NP_001395424.1:p.Leu208Ser
  • NP_001395425.1:p.Leu201Ser
  • NP_001395426.1:p.Leu201Ser
  • NP_001395427.1:p.Leu201Ser
  • NP_001395428.1:p.Leu201Ser
  • NP_001395429.1:p.Leu201Ser
  • NP_001395430.1:p.Leu201Ser
  • NP_001395431.1:p.Leu178Ser
  • NP_001395432.1:p.Leu200Ser
  • NP_001395433.1:p.Leu200Ser
  • NP_001395434.1:p.Leu200Ser
  • NP_001395435.1:p.Leu180Ser
  • NP_001395436.1:p.Leu180Ser
  • NP_001395437.1:p.Leu177Ser
  • NP_001395438.1:p.Leu177Ser
  • NP_001395439.1:p.Leu162Ser
  • NP_001395440.1:p.Leu161Ser
  • NP_001395441.1:p.Leu121Ser
  • NP_001395442.1:p.Leu219Ser
  • NP_001395443.1:p.Leu219Ser
  • NP_009225.1:p.Leu1392Ser
  • NP_009225.1:p.Leu1392Ser
  • NP_009228.2:p.Leu1345Ser
  • NP_009229.2:p.Leu289Ser
  • NP_009229.2:p.Leu289Ser
  • NP_009230.2:p.Leu289Ser
  • NP_009231.2:p.Leu1392Ser
  • NP_009235.2:p.Leu289Ser
  • LRG_292t1:c.4175T>C
  • LRG_292:g.127030T>C
  • LRG_292p1:p.Leu1392Ser
  • NC_000017.10:g.41242971A>G
  • NM_007294.3:c.4175T>C
  • NM_007298.3:c.866T>C
  • NR_027676.2:n.4352T>C
Protein change:
L1096S
Links:
dbSNP: rs778319854
NCBI 1000 Genomes Browser:
rs778319854
Molecular consequence:
  • NM_001407571.1:c.3962T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4166T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4166T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4094T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4097T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3962T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4172T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3974T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3971T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3971T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3962T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3962T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3962T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3962T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3962T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3962T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3962T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3962T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3962T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3962T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3911T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3908T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4052T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4049T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3842T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3842T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3842T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3842T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3842T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3842T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3842T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3842T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3839T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3839T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3839T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3842T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3839T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3794T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3794T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3791T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3794T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4031T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3671T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3287T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3287T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1571T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.860T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.857T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.746T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.749T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.746T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.746T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.740T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.740T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.740T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.740T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.743T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.740T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.740T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.740T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.740T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.740T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.731T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.725T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.665T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.662T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.665T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.653T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.653T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.653T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.626T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.623T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.602T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.602T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.602T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.602T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.602T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.602T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.599T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.599T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.599T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.539T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.539T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.485T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.482T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.362T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.656T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4034T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4175T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4352T>C - 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
SCV000830305Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 3, 2023) 		germlineclinical testing

PubMed (2)
[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

Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.

Singh J, Thota N, Singh S, Padhi S, Mohan P, Deshwal S, Sur S, Ghosh M, Agarwal A, Sarin R, Ahmed R, Almel S, Chakraborti B, Raina V, DadiReddy PK, Smruti BK, Rajappa S, Dodagoudar C, Aggarwal S, Singhal M, Joshi A, Kumar R, et al.

Breast Cancer Res Treat. 2018 Jul;170(1):189-196. doi: 10.1007/s10549-018-4726-x. Epub 2018 Feb 22.

PubMed [citation]
PMID:
29470806

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000830305.4

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

Description

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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 578485). This missense change has been observed in individual(s) with breast cancer (PMID: 29470806). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1392 of the BRCA1 protein (p.Leu1392Ser).

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

Last Updated: Sep 29, 2024