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NM_007294.4(BRCA1):c.4315C>T (p.Leu1439Phe) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 8, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000221961.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.4315C>T (p.Leu1439Phe)]

NM_007294.4(BRCA1):c.4315C>T (p.Leu1439Phe)

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.4315C>T (p.Leu1439Phe)
HGVS:
  • NC_000017.11:g.43082446G>A
  • NG_005905.2:g.135538C>T
  • NM_001407571.1:c.4102C>T
  • NM_001407581.1:c.4315C>T
  • NM_001407582.1:c.4315C>T
  • NM_001407583.1:c.4315C>T
  • NM_001407585.1:c.4315C>T
  • NM_001407587.1:c.4312C>T
  • NM_001407590.1:c.4312C>T
  • NM_001407591.1:c.4312C>T
  • NM_001407593.1:c.4315C>T
  • NM_001407594.1:c.4315C>T
  • NM_001407596.1:c.4315C>T
  • NM_001407597.1:c.4315C>T
  • NM_001407598.1:c.4315C>T
  • NM_001407602.1:c.4315C>T
  • NM_001407603.1:c.4315C>T
  • NM_001407605.1:c.4315C>T
  • NM_001407610.1:c.4312C>T
  • NM_001407611.1:c.4312C>T
  • NM_001407612.1:c.4312C>T
  • NM_001407613.1:c.4312C>T
  • NM_001407614.1:c.4312C>T
  • NM_001407615.1:c.4312C>T
  • NM_001407616.1:c.4315C>T
  • NM_001407617.1:c.4315C>T
  • NM_001407618.1:c.4315C>T
  • NM_001407619.1:c.4315C>T
  • NM_001407620.1:c.4315C>T
  • NM_001407621.1:c.4315C>T
  • NM_001407622.1:c.4315C>T
  • NM_001407623.1:c.4315C>T
  • NM_001407624.1:c.4312C>T
  • NM_001407625.1:c.4312C>T
  • NM_001407626.1:c.4312C>T
  • NM_001407627.1:c.4309C>T
  • NM_001407628.1:c.4309C>T
  • NM_001407629.1:c.4309C>T
  • NM_001407630.1:c.4309C>T
  • NM_001407631.1:c.4309C>T
  • NM_001407632.1:c.4309C>T
  • NM_001407633.1:c.4312C>T
  • NM_001407634.1:c.4312C>T
  • NM_001407635.1:c.4312C>T
  • NM_001407636.1:c.4312C>T
  • NM_001407637.1:c.4312C>T
  • NM_001407638.1:c.4312C>T
  • NM_001407639.1:c.4312C>T
  • NM_001407640.1:c.4312C>T
  • NM_001407641.1:c.4312C>T
  • NM_001407642.1:c.4312C>T
  • NM_001407644.1:c.4309C>T
  • NM_001407645.1:c.4309C>T
  • NM_001407646.1:c.4303C>T
  • NM_001407647.1:c.4303C>T
  • NM_001407648.1:c.4192C>T
  • NM_001407649.1:c.4189C>T
  • NM_001407652.1:c.4315C>T
  • NM_001407653.1:c.4237C>T
  • NM_001407654.1:c.4237C>T
  • NM_001407655.1:c.4237C>T
  • NM_001407656.1:c.4234C>T
  • NM_001407657.1:c.4237C>T
  • NM_001407658.1:c.4237C>T
  • NM_001407659.1:c.4231C>T
  • NM_001407660.1:c.4231C>T
  • NM_001407661.1:c.4234C>T
  • NM_001407662.1:c.4234C>T
  • NM_001407663.1:c.4234C>T
  • NM_001407664.1:c.4192C>T
  • NM_001407665.1:c.4192C>T
  • NM_001407666.1:c.4192C>T
  • NM_001407667.1:c.4192C>T
  • NM_001407668.1:c.4192C>T
  • NM_001407669.1:c.4192C>T
  • NM_001407670.1:c.4189C>T
  • NM_001407671.1:c.4189C>T
  • NM_001407672.1:c.4189C>T
  • NM_001407673.1:c.4189C>T
  • NM_001407674.1:c.4189C>T
  • NM_001407675.1:c.4189C>T
  • NM_001407676.1:c.4189C>T
  • NM_001407677.1:c.4192C>T
  • NM_001407678.1:c.4192C>T
  • NM_001407679.1:c.4192C>T
  • NM_001407680.1:c.4192C>T
  • NM_001407681.1:c.4189C>T
  • NM_001407682.1:c.4189C>T
  • NM_001407683.1:c.4189C>T
  • NM_001407684.1:c.4315C>T
  • NM_001407685.1:c.4186C>T
  • NM_001407686.1:c.4186C>T
  • NM_001407687.1:c.4186C>T
  • NM_001407688.1:c.4189C>T
  • NM_001407689.1:c.4189C>T
  • NM_001407690.1:c.4186C>T
  • NM_001407691.1:c.4186C>T
  • NM_001407692.1:c.4174C>T
  • NM_001407694.1:c.4174C>T
  • NM_001407695.1:c.4174C>T
  • NM_001407696.1:c.4174C>T
  • NM_001407697.1:c.4174C>T
  • NM_001407698.1:c.4174C>T
  • NM_001407724.1:c.4174C>T
  • NM_001407725.1:c.4174C>T
  • NM_001407726.1:c.4174C>T
  • NM_001407727.1:c.4174C>T
  • NM_001407728.1:c.4174C>T
  • NM_001407729.1:c.4174C>T
  • NM_001407730.1:c.4174C>T
  • NM_001407731.1:c.4174C>T
  • NM_001407732.1:c.4174C>T
  • NM_001407733.1:c.4174C>T
  • NM_001407734.1:c.4174C>T
  • NM_001407735.1:c.4174C>T
  • NM_001407736.1:c.4174C>T
  • NM_001407737.1:c.4174C>T
  • NM_001407738.1:c.4174C>T
  • NM_001407739.1:c.4174C>T
  • NM_001407740.1:c.4171C>T
  • NM_001407741.1:c.4171C>T
  • NM_001407742.1:c.4171C>T
  • NM_001407743.1:c.4171C>T
  • NM_001407744.1:c.4171C>T
  • NM_001407745.1:c.4171C>T
  • NM_001407746.1:c.4171C>T
  • NM_001407747.1:c.4171C>T
  • NM_001407748.1:c.4171C>T
  • NM_001407749.1:c.4171C>T
  • NM_001407750.1:c.4171C>T
  • NM_001407751.1:c.4171C>T
  • NM_001407752.1:c.4171C>T
  • NM_001407838.1:c.4171C>T
  • NM_001407839.1:c.4171C>T
  • NM_001407841.1:c.4171C>T
  • NM_001407842.1:c.4171C>T
  • NM_001407843.1:c.4171C>T
  • NM_001407844.1:c.4171C>T
  • NM_001407845.1:c.4171C>T
  • NM_001407846.1:c.4171C>T
  • NM_001407847.1:c.4168C>T
  • NM_001407848.1:c.4168C>T
  • NM_001407849.1:c.4168C>T
  • NM_001407850.1:c.4171C>T
  • NM_001407851.1:c.4171C>T
  • NM_001407852.1:c.4171C>T
  • NM_001407853.1:c.4102C>T
  • NM_001407854.1:c.4315C>T
  • NM_001407858.1:c.4315C>T
  • NM_001407859.1:c.4315C>T
  • NM_001407860.1:c.4312C>T
  • NM_001407861.1:c.4312C>T
  • NM_001407862.1:c.4114C>T
  • NM_001407863.1:c.4192C>T
  • NM_001407874.1:c.4111C>T
  • NM_001407875.1:c.4111C>T
  • NM_001407879.1:c.4105C>T
  • NM_001407881.1:c.4105C>T
  • NM_001407882.1:c.4105C>T
  • NM_001407884.1:c.4105C>T
  • NM_001407885.1:c.4105C>T
  • NM_001407886.1:c.4105C>T
  • NM_001407887.1:c.4105C>T
  • NM_001407889.1:c.4105C>T
  • NM_001407894.1:c.4102C>T
  • NM_001407895.1:c.4102C>T
  • NM_001407896.1:c.4102C>T
  • NM_001407897.1:c.4102C>T
  • NM_001407898.1:c.4102C>T
  • NM_001407899.1:c.4102C>T
  • NM_001407900.1:c.4105C>T
  • NM_001407902.1:c.4105C>T
  • NM_001407904.1:c.4105C>T
  • NM_001407906.1:c.4105C>T
  • NM_001407907.1:c.4102C>T
  • NM_001407908.1:c.4102C>T
  • NM_001407909.1:c.4102C>T
  • NM_001407910.1:c.4102C>T
  • NM_001407915.1:c.4099C>T
  • NM_001407916.1:c.4102C>T
  • NM_001407917.1:c.4102C>T
  • NM_001407918.1:c.4102C>T
  • NM_001407919.1:c.4192C>T
  • NM_001407920.1:c.4051C>T
  • NM_001407921.1:c.4051C>T
  • NM_001407922.1:c.4051C>T
  • NM_001407923.1:c.4051C>T
  • NM_001407924.1:c.4051C>T
  • NM_001407925.1:c.4051C>T
  • NM_001407926.1:c.4051C>T
  • NM_001407927.1:c.4051C>T
  • NM_001407928.1:c.4051C>T
  • NM_001407929.1:c.4051C>T
  • NM_001407930.1:c.4048C>T
  • NM_001407931.1:c.4048C>T
  • NM_001407932.1:c.4048C>T
  • NM_001407933.1:c.4048C>T
  • NM_001407934.1:c.4045C>T
  • NM_001407935.1:c.4048C>T
  • NM_001407936.1:c.4048C>T
  • NM_001407937.1:c.4192C>T
  • NM_001407938.1:c.4192C>T
  • NM_001407939.1:c.4192C>T
  • NM_001407940.1:c.4189C>T
  • NM_001407941.1:c.4189C>T
  • NM_001407942.1:c.4174C>T
  • NM_001407943.1:c.4171C>T
  • NM_001407944.1:c.4174C>T
  • NM_001407945.1:c.4174C>T
  • NM_001407946.1:c.3982C>T
  • NM_001407947.1:c.3982C>T
  • NM_001407948.1:c.3982C>T
  • NM_001407949.1:c.3982C>T
  • NM_001407950.1:c.3982C>T
  • NM_001407951.1:c.3982C>T
  • NM_001407952.1:c.3979C>T
  • NM_001407953.1:c.3979C>T
  • NM_001407954.1:c.3979C>T
  • NM_001407955.1:c.3979C>T
  • NM_001407956.1:c.3976C>T
  • NM_001407957.1:c.3979C>T
  • NM_001407958.1:c.3979C>T
  • NM_001407959.1:c.3934C>T
  • NM_001407960.1:c.3934C>T
  • NM_001407962.1:c.3931C>T
  • NM_001407963.1:c.3931C>T
  • NM_001407964.1:c.4171C>T
  • NM_001407965.1:c.3808C>T
  • NM_001407966.1:c.3427C>T
  • NM_001407967.1:c.3427C>T
  • NM_001407968.1:c.1711C>T
  • NM_001407969.1:c.1708C>T
  • NM_001407970.1:c.1006C>T
  • NM_001407971.1:c.1006C>T
  • NM_001407972.1:c.1003C>T
  • NM_001407973.1:c.1006C>T
  • NM_001407974.1:c.1006C>T
  • NM_001407975.1:c.1006C>T
  • NM_001407976.1:c.1006C>T
  • NM_001407977.1:c.1006C>T
  • NM_001407978.1:c.1006C>T
  • NM_001407979.1:c.1003C>T
  • NM_001407980.1:c.1003C>T
  • NM_001407981.1:c.1003C>T
  • NM_001407982.1:c.1003C>T
  • NM_001407983.1:c.1003C>T
  • NM_001407984.1:c.1003C>T
  • NM_001407985.1:c.1003C>T
  • NM_001407986.1:c.1003C>T
  • NM_001407990.1:c.1003C>T
  • NM_001407991.1:c.1003C>T
  • NM_001407992.1:c.1003C>T
  • NM_001407993.1:c.1006C>T
  • NM_001408392.1:c.1003C>T
  • NM_001408396.1:c.1003C>T
  • NM_001408397.1:c.1003C>T
  • NM_001408398.1:c.1003C>T
  • NM_001408399.1:c.1003C>T
  • NM_001408400.1:c.1000C>T
  • NM_001408401.1:c.1000C>T
  • NM_001408402.1:c.1000C>T
  • NM_001408403.1:c.1003C>T
  • NM_001408404.1:c.1003C>T
  • NM_001408406.1:c.997C>T
  • NM_001408407.1:c.1000C>T
  • NM_001408408.1:c.997C>T
  • NM_001408409.1:c.928C>T
  • NM_001408410.1:c.865C>T
  • NM_001408411.1:c.928C>T
  • NM_001408412.1:c.928C>T
  • NM_001408413.1:c.925C>T
  • NM_001408414.1:c.928C>T
  • NM_001408415.1:c.928C>T
  • NM_001408416.1:c.925C>T
  • NM_001408418.1:c.889C>T
  • NM_001408419.1:c.889C>T
  • NM_001408420.1:c.889C>T
  • NM_001408421.1:c.886C>T
  • NM_001408422.1:c.889C>T
  • NM_001408423.1:c.889C>T
  • NM_001408424.1:c.886C>T
  • NM_001408425.1:c.883C>T
  • NM_001408426.1:c.883C>T
  • NM_001408427.1:c.883C>T
  • NM_001408428.1:c.883C>T
  • NM_001408429.1:c.883C>T
  • NM_001408430.1:c.883C>T
  • NM_001408431.1:c.886C>T
  • NM_001408432.1:c.880C>T
  • NM_001408433.1:c.880C>T
  • NM_001408434.1:c.880C>T
  • NM_001408435.1:c.880C>T
  • NM_001408436.1:c.883C>T
  • NM_001408437.1:c.883C>T
  • NM_001408438.1:c.883C>T
  • NM_001408439.1:c.883C>T
  • NM_001408440.1:c.883C>T
  • NM_001408441.1:c.880C>T
  • NM_001408442.1:c.880C>T
  • NM_001408443.1:c.880C>T
  • NM_001408444.1:c.880C>T
  • NM_001408445.1:c.880C>T
  • NM_001408446.1:c.880C>T
  • NM_001408447.1:c.880C>T
  • NM_001408448.1:c.880C>T
  • NM_001408450.1:c.880C>T
  • NM_001408451.1:c.871C>T
  • NM_001408452.1:c.865C>T
  • NM_001408453.1:c.865C>T
  • NM_001408454.1:c.865C>T
  • NM_001408455.1:c.865C>T
  • NM_001408456.1:c.865C>T
  • NM_001408457.1:c.865C>T
  • NM_001408458.1:c.865C>T
  • NM_001408459.1:c.865C>T
  • NM_001408460.1:c.865C>T
  • NM_001408461.1:c.865C>T
  • NM_001408462.1:c.862C>T
  • NM_001408463.1:c.862C>T
  • NM_001408464.1:c.862C>T
  • NM_001408465.1:c.862C>T
  • NM_001408466.1:c.862C>T
  • NM_001408467.1:c.862C>T
  • NM_001408468.1:c.862C>T
  • NM_001408469.1:c.862C>T
  • NM_001408470.1:c.859C>T
  • NM_001408472.1:c.1003C>T
  • NM_001408473.1:c.1003C>T
  • NM_001408474.1:c.805C>T
  • NM_001408475.1:c.802C>T
  • NM_001408476.1:c.805C>T
  • NM_001408478.1:c.796C>T
  • NM_001408479.1:c.796C>T
  • NM_001408480.1:c.796C>T
  • NM_001408481.1:c.796C>T
  • NM_001408482.1:c.796C>T
  • NM_001408483.1:c.796C>T
  • NM_001408484.1:c.796C>T
  • NM_001408485.1:c.796C>T
  • NM_001408489.1:c.793C>T
  • NM_001408490.1:c.793C>T
  • NM_001408491.1:c.793C>T
  • NM_001408492.1:c.793C>T
  • NM_001408493.1:c.793C>T
  • NM_001408494.1:c.766C>T
  • NM_001408495.1:c.763C>T
  • NM_001408496.1:c.742C>T
  • NM_001408497.1:c.742C>T
  • NM_001408498.1:c.742C>T
  • NM_001408499.1:c.742C>T
  • NM_001408500.1:c.742C>T
  • NM_001408501.1:c.742C>T
  • NM_001408502.1:c.673C>T
  • NM_001408503.1:c.739C>T
  • NM_001408504.1:c.739C>T
  • NM_001408505.1:c.739C>T
  • NM_001408506.1:c.679C>T
  • NM_001408507.1:c.676C>T
  • NM_001408508.1:c.667C>T
  • NM_001408509.1:c.667C>T
  • NM_001408510.1:c.625C>T
  • NM_001408511.1:c.622C>T
  • NM_001408512.1:c.502C>T
  • NM_001408513.1:c.793C>T
  • NM_001408514.1:c.796C>T
  • NM_007294.4:c.4315C>TMANE SELECT
  • NM_007297.4:c.4174C>T
  • NM_007298.4:c.1006C>T
  • NM_007299.4:c.1006C>T
  • NM_007300.4:c.4315C>T
  • NM_007304.2:c.1006C>T
  • NP_001394500.1:p.Leu1368Phe
  • NP_001394510.1:p.Leu1439Phe
  • NP_001394511.1:p.Leu1439Phe
  • NP_001394512.1:p.Leu1439Phe
  • NP_001394514.1:p.Leu1439Phe
  • NP_001394516.1:p.Leu1438Phe
  • NP_001394519.1:p.Leu1438Phe
  • NP_001394520.1:p.Leu1438Phe
  • NP_001394522.1:p.Leu1439Phe
  • NP_001394523.1:p.Leu1439Phe
  • NP_001394525.1:p.Leu1439Phe
  • NP_001394526.1:p.Leu1439Phe
  • NP_001394527.1:p.Leu1439Phe
  • NP_001394531.1:p.Leu1439Phe
  • NP_001394532.1:p.Leu1439Phe
  • NP_001394534.1:p.Leu1439Phe
  • NP_001394539.1:p.Leu1438Phe
  • NP_001394540.1:p.Leu1438Phe
  • NP_001394541.1:p.Leu1438Phe
  • NP_001394542.1:p.Leu1438Phe
  • NP_001394543.1:p.Leu1438Phe
  • NP_001394544.1:p.Leu1438Phe
  • NP_001394545.1:p.Leu1439Phe
  • NP_001394546.1:p.Leu1439Phe
  • NP_001394547.1:p.Leu1439Phe
  • NP_001394548.1:p.Leu1439Phe
  • NP_001394549.1:p.Leu1439Phe
  • NP_001394550.1:p.Leu1439Phe
  • NP_001394551.1:p.Leu1439Phe
  • NP_001394552.1:p.Leu1439Phe
  • NP_001394553.1:p.Leu1438Phe
  • NP_001394554.1:p.Leu1438Phe
  • NP_001394555.1:p.Leu1438Phe
  • NP_001394556.1:p.Leu1437Phe
  • NP_001394557.1:p.Leu1437Phe
  • NP_001394558.1:p.Leu1437Phe
  • NP_001394559.1:p.Leu1437Phe
  • NP_001394560.1:p.Leu1437Phe
  • NP_001394561.1:p.Leu1437Phe
  • NP_001394562.1:p.Leu1438Phe
  • NP_001394563.1:p.Leu1438Phe
  • NP_001394564.1:p.Leu1438Phe
  • NP_001394565.1:p.Leu1438Phe
  • NP_001394566.1:p.Leu1438Phe
  • NP_001394567.1:p.Leu1438Phe
  • NP_001394568.1:p.Leu1438Phe
  • NP_001394569.1:p.Leu1438Phe
  • NP_001394570.1:p.Leu1438Phe
  • NP_001394571.1:p.Leu1438Phe
  • NP_001394573.1:p.Leu1437Phe
  • NP_001394574.1:p.Leu1437Phe
  • NP_001394575.1:p.Leu1435Phe
  • NP_001394576.1:p.Leu1435Phe
  • NP_001394577.1:p.Leu1398Phe
  • NP_001394578.1:p.Leu1397Phe
  • NP_001394581.1:p.Leu1439Phe
  • NP_001394582.1:p.Leu1413Phe
  • NP_001394583.1:p.Leu1413Phe
  • NP_001394584.1:p.Leu1413Phe
  • NP_001394585.1:p.Leu1412Phe
  • NP_001394586.1:p.Leu1413Phe
  • NP_001394587.1:p.Leu1413Phe
  • NP_001394588.1:p.Leu1411Phe
  • NP_001394589.1:p.Leu1411Phe
  • NP_001394590.1:p.Leu1412Phe
  • NP_001394591.1:p.Leu1412Phe
  • NP_001394592.1:p.Leu1412Phe
  • NP_001394593.1:p.Leu1398Phe
  • NP_001394594.1:p.Leu1398Phe
  • NP_001394595.1:p.Leu1398Phe
  • NP_001394596.1:p.Leu1398Phe
  • NP_001394597.1:p.Leu1398Phe
  • NP_001394598.1:p.Leu1398Phe
  • NP_001394599.1:p.Leu1397Phe
  • NP_001394600.1:p.Leu1397Phe
  • NP_001394601.1:p.Leu1397Phe
  • NP_001394602.1:p.Leu1397Phe
  • NP_001394603.1:p.Leu1397Phe
  • NP_001394604.1:p.Leu1397Phe
  • NP_001394605.1:p.Leu1397Phe
  • NP_001394606.1:p.Leu1398Phe
  • NP_001394607.1:p.Leu1398Phe
  • NP_001394608.1:p.Leu1398Phe
  • NP_001394609.1:p.Leu1398Phe
  • NP_001394610.1:p.Leu1397Phe
  • NP_001394611.1:p.Leu1397Phe
  • NP_001394612.1:p.Leu1397Phe
  • NP_001394613.1:p.Leu1439Phe
  • NP_001394614.1:p.Leu1396Phe
  • NP_001394615.1:p.Leu1396Phe
  • NP_001394616.1:p.Leu1396Phe
  • NP_001394617.1:p.Leu1397Phe
  • NP_001394618.1:p.Leu1397Phe
  • NP_001394619.1:p.Leu1396Phe
  • NP_001394620.1:p.Leu1396Phe
  • NP_001394621.1:p.Leu1392Phe
  • NP_001394623.1:p.Leu1392Phe
  • NP_001394624.1:p.Leu1392Phe
  • NP_001394625.1:p.Leu1392Phe
  • NP_001394626.1:p.Leu1392Phe
  • NP_001394627.1:p.Leu1392Phe
  • NP_001394653.1:p.Leu1392Phe
  • NP_001394654.1:p.Leu1392Phe
  • NP_001394655.1:p.Leu1392Phe
  • NP_001394656.1:p.Leu1392Phe
  • NP_001394657.1:p.Leu1392Phe
  • NP_001394658.1:p.Leu1392Phe
  • NP_001394659.1:p.Leu1392Phe
  • NP_001394660.1:p.Leu1392Phe
  • NP_001394661.1:p.Leu1392Phe
  • NP_001394662.1:p.Leu1392Phe
  • NP_001394663.1:p.Leu1392Phe
  • NP_001394664.1:p.Leu1392Phe
  • NP_001394665.1:p.Leu1392Phe
  • NP_001394666.1:p.Leu1392Phe
  • NP_001394667.1:p.Leu1392Phe
  • NP_001394668.1:p.Leu1392Phe
  • NP_001394669.1:p.Leu1391Phe
  • NP_001394670.1:p.Leu1391Phe
  • NP_001394671.1:p.Leu1391Phe
  • NP_001394672.1:p.Leu1391Phe
  • NP_001394673.1:p.Leu1391Phe
  • NP_001394674.1:p.Leu1391Phe
  • NP_001394675.1:p.Leu1391Phe
  • NP_001394676.1:p.Leu1391Phe
  • NP_001394677.1:p.Leu1391Phe
  • NP_001394678.1:p.Leu1391Phe
  • NP_001394679.1:p.Leu1391Phe
  • NP_001394680.1:p.Leu1391Phe
  • NP_001394681.1:p.Leu1391Phe
  • NP_001394767.1:p.Leu1391Phe
  • NP_001394768.1:p.Leu1391Phe
  • NP_001394770.1:p.Leu1391Phe
  • NP_001394771.1:p.Leu1391Phe
  • NP_001394772.1:p.Leu1391Phe
  • NP_001394773.1:p.Leu1391Phe
  • NP_001394774.1:p.Leu1391Phe
  • NP_001394775.1:p.Leu1391Phe
  • NP_001394776.1:p.Leu1390Phe
  • NP_001394777.1:p.Leu1390Phe
  • NP_001394778.1:p.Leu1390Phe
  • NP_001394779.1:p.Leu1391Phe
  • NP_001394780.1:p.Leu1391Phe
  • NP_001394781.1:p.Leu1391Phe
  • NP_001394782.1:p.Leu1368Phe
  • NP_001394783.1:p.Leu1439Phe
  • NP_001394787.1:p.Leu1439Phe
  • NP_001394788.1:p.Leu1439Phe
  • NP_001394789.1:p.Leu1438Phe
  • NP_001394790.1:p.Leu1438Phe
  • NP_001394791.1:p.Leu1372Phe
  • NP_001394792.1:p.Leu1398Phe
  • NP_001394803.1:p.Leu1371Phe
  • NP_001394804.1:p.Leu1371Phe
  • NP_001394808.1:p.Leu1369Phe
  • NP_001394810.1:p.Leu1369Phe
  • NP_001394811.1:p.Leu1369Phe
  • NP_001394813.1:p.Leu1369Phe
  • NP_001394814.1:p.Leu1369Phe
  • NP_001394815.1:p.Leu1369Phe
  • NP_001394816.1:p.Leu1369Phe
  • NP_001394818.1:p.Leu1369Phe
  • NP_001394823.1:p.Leu1368Phe
  • NP_001394824.1:p.Leu1368Phe
  • NP_001394825.1:p.Leu1368Phe
  • NP_001394826.1:p.Leu1368Phe
  • NP_001394827.1:p.Leu1368Phe
  • NP_001394828.1:p.Leu1368Phe
  • NP_001394829.1:p.Leu1369Phe
  • NP_001394831.1:p.Leu1369Phe
  • NP_001394833.1:p.Leu1369Phe
  • NP_001394835.1:p.Leu1369Phe
  • NP_001394836.1:p.Leu1368Phe
  • NP_001394837.1:p.Leu1368Phe
  • NP_001394838.1:p.Leu1368Phe
  • NP_001394839.1:p.Leu1368Phe
  • NP_001394844.1:p.Leu1367Phe
  • NP_001394845.1:p.Leu1368Phe
  • NP_001394846.1:p.Leu1368Phe
  • NP_001394847.1:p.Leu1368Phe
  • NP_001394848.1:p.Leu1398Phe
  • NP_001394849.1:p.Leu1351Phe
  • NP_001394850.1:p.Leu1351Phe
  • NP_001394851.1:p.Leu1351Phe
  • NP_001394852.1:p.Leu1351Phe
  • NP_001394853.1:p.Leu1351Phe
  • NP_001394854.1:p.Leu1351Phe
  • NP_001394855.1:p.Leu1351Phe
  • NP_001394856.1:p.Leu1351Phe
  • NP_001394857.1:p.Leu1351Phe
  • NP_001394858.1:p.Leu1351Phe
  • NP_001394859.1:p.Leu1350Phe
  • NP_001394860.1:p.Leu1350Phe
  • NP_001394861.1:p.Leu1350Phe
  • NP_001394862.1:p.Leu1350Phe
  • NP_001394863.1:p.Leu1349Phe
  • NP_001394864.1:p.Leu1350Phe
  • NP_001394865.1:p.Leu1350Phe
  • NP_001394866.1:p.Leu1398Phe
  • NP_001394867.1:p.Leu1398Phe
  • NP_001394868.1:p.Leu1398Phe
  • NP_001394869.1:p.Leu1397Phe
  • NP_001394870.1:p.Leu1397Phe
  • NP_001394871.1:p.Leu1392Phe
  • NP_001394872.1:p.Leu1391Phe
  • NP_001394873.1:p.Leu1392Phe
  • NP_001394874.1:p.Leu1392Phe
  • NP_001394875.1:p.Leu1328Phe
  • NP_001394876.1:p.Leu1328Phe
  • NP_001394877.1:p.Leu1328Phe
  • NP_001394878.1:p.Leu1328Phe
  • NP_001394879.1:p.Leu1328Phe
  • NP_001394880.1:p.Leu1328Phe
  • NP_001394881.1:p.Leu1327Phe
  • NP_001394882.1:p.Leu1327Phe
  • NP_001394883.1:p.Leu1327Phe
  • NP_001394884.1:p.Leu1327Phe
  • NP_001394885.1:p.Leu1326Phe
  • NP_001394886.1:p.Leu1327Phe
  • NP_001394887.1:p.Leu1327Phe
  • NP_001394888.1:p.Leu1312Phe
  • NP_001394889.1:p.Leu1312Phe
  • NP_001394891.1:p.Leu1311Phe
  • NP_001394892.1:p.Leu1311Phe
  • NP_001394893.1:p.Leu1391Phe
  • NP_001394894.1:p.Leu1270Phe
  • NP_001394895.1:p.Leu1143Phe
  • NP_001394896.1:p.Leu1143Phe
  • NP_001394897.1:p.Leu571Phe
  • NP_001394898.1:p.Leu570Phe
  • NP_001394899.1:p.Leu336Phe
  • NP_001394900.1:p.Leu336Phe
  • NP_001394901.1:p.Leu335Phe
  • NP_001394902.1:p.Leu336Phe
  • NP_001394903.1:p.Leu336Phe
  • NP_001394904.1:p.Leu336Phe
  • NP_001394905.1:p.Leu336Phe
  • NP_001394906.1:p.Leu336Phe
  • NP_001394907.1:p.Leu336Phe
  • NP_001394908.1:p.Leu335Phe
  • NP_001394909.1:p.Leu335Phe
  • NP_001394910.1:p.Leu335Phe
  • NP_001394911.1:p.Leu335Phe
  • NP_001394912.1:p.Leu335Phe
  • NP_001394913.1:p.Leu335Phe
  • NP_001394914.1:p.Leu335Phe
  • NP_001394915.1:p.Leu335Phe
  • NP_001394919.1:p.Leu335Phe
  • NP_001394920.1:p.Leu335Phe
  • NP_001394921.1:p.Leu335Phe
  • NP_001394922.1:p.Leu336Phe
  • NP_001395321.1:p.Leu335Phe
  • NP_001395325.1:p.Leu335Phe
  • NP_001395326.1:p.Leu335Phe
  • NP_001395327.1:p.Leu335Phe
  • NP_001395328.1:p.Leu335Phe
  • NP_001395329.1:p.Leu334Phe
  • NP_001395330.1:p.Leu334Phe
  • NP_001395331.1:p.Leu334Phe
  • NP_001395332.1:p.Leu335Phe
  • NP_001395333.1:p.Leu335Phe
  • NP_001395335.1:p.Leu333Phe
  • NP_001395336.1:p.Leu334Phe
  • NP_001395337.1:p.Leu333Phe
  • NP_001395338.1:p.Leu310Phe
  • NP_001395339.1:p.Leu289Phe
  • NP_001395340.1:p.Leu310Phe
  • NP_001395341.1:p.Leu310Phe
  • NP_001395342.1:p.Leu309Phe
  • NP_001395343.1:p.Leu310Phe
  • NP_001395344.1:p.Leu310Phe
  • NP_001395345.1:p.Leu309Phe
  • NP_001395347.1:p.Leu297Phe
  • NP_001395348.1:p.Leu297Phe
  • NP_001395349.1:p.Leu297Phe
  • NP_001395350.1:p.Leu296Phe
  • NP_001395351.1:p.Leu297Phe
  • NP_001395352.1:p.Leu297Phe
  • NP_001395353.1:p.Leu296Phe
  • NP_001395354.1:p.Leu295Phe
  • NP_001395355.1:p.Leu295Phe
  • NP_001395356.1:p.Leu295Phe
  • NP_001395357.1:p.Leu295Phe
  • NP_001395358.1:p.Leu295Phe
  • NP_001395359.1:p.Leu295Phe
  • NP_001395360.1:p.Leu296Phe
  • NP_001395361.1:p.Leu294Phe
  • NP_001395362.1:p.Leu294Phe
  • NP_001395363.1:p.Leu294Phe
  • NP_001395364.1:p.Leu294Phe
  • NP_001395365.1:p.Leu295Phe
  • NP_001395366.1:p.Leu295Phe
  • NP_001395367.1:p.Leu295Phe
  • NP_001395368.1:p.Leu295Phe
  • NP_001395369.1:p.Leu295Phe
  • NP_001395370.1:p.Leu294Phe
  • NP_001395371.1:p.Leu294Phe
  • NP_001395372.1:p.Leu294Phe
  • NP_001395373.1:p.Leu294Phe
  • NP_001395374.1:p.Leu294Phe
  • NP_001395375.1:p.Leu294Phe
  • NP_001395376.1:p.Leu294Phe
  • NP_001395377.1:p.Leu294Phe
  • NP_001395379.1:p.Leu294Phe
  • NP_001395380.1:p.Leu291Phe
  • NP_001395381.1:p.Leu289Phe
  • NP_001395382.1:p.Leu289Phe
  • NP_001395383.1:p.Leu289Phe
  • NP_001395384.1:p.Leu289Phe
  • NP_001395385.1:p.Leu289Phe
  • NP_001395386.1:p.Leu289Phe
  • NP_001395387.1:p.Leu289Phe
  • NP_001395388.1:p.Leu289Phe
  • NP_001395389.1:p.Leu289Phe
  • NP_001395390.1:p.Leu289Phe
  • NP_001395391.1:p.Leu288Phe
  • NP_001395392.1:p.Leu288Phe
  • NP_001395393.1:p.Leu288Phe
  • NP_001395394.1:p.Leu288Phe
  • NP_001395395.1:p.Leu288Phe
  • NP_001395396.1:p.Leu288Phe
  • NP_001395397.1:p.Leu288Phe
  • NP_001395398.1:p.Leu288Phe
  • NP_001395399.1:p.Leu287Phe
  • NP_001395401.1:p.Leu335Phe
  • NP_001395402.1:p.Leu335Phe
  • NP_001395403.1:p.Leu269Phe
  • NP_001395404.1:p.Leu268Phe
  • NP_001395405.1:p.Leu269Phe
  • NP_001395407.1:p.Leu266Phe
  • NP_001395408.1:p.Leu266Phe
  • NP_001395409.1:p.Leu266Phe
  • NP_001395410.1:p.Leu266Phe
  • NP_001395411.1:p.Leu266Phe
  • NP_001395412.1:p.Leu266Phe
  • NP_001395413.1:p.Leu266Phe
  • NP_001395414.1:p.Leu266Phe
  • NP_001395418.1:p.Leu265Phe
  • NP_001395419.1:p.Leu265Phe
  • NP_001395420.1:p.Leu265Phe
  • NP_001395421.1:p.Leu265Phe
  • NP_001395422.1:p.Leu265Phe
  • NP_001395423.1:p.Leu256Phe
  • NP_001395424.1:p.Leu255Phe
  • NP_001395425.1:p.Leu248Phe
  • NP_001395426.1:p.Leu248Phe
  • NP_001395427.1:p.Leu248Phe
  • NP_001395428.1:p.Leu248Phe
  • NP_001395429.1:p.Leu248Phe
  • NP_001395430.1:p.Leu248Phe
  • NP_001395431.1:p.Leu225Phe
  • NP_001395432.1:p.Leu247Phe
  • NP_001395433.1:p.Leu247Phe
  • NP_001395434.1:p.Leu247Phe
  • NP_001395435.1:p.Leu227Phe
  • NP_001395436.1:p.Leu226Phe
  • NP_001395437.1:p.Leu223Phe
  • NP_001395438.1:p.Leu223Phe
  • NP_001395439.1:p.Leu209Phe
  • NP_001395440.1:p.Leu208Phe
  • NP_001395441.1:p.Leu168Phe
  • NP_001395442.1:p.Leu265Phe
  • NP_001395443.1:p.Leu266Phe
  • NP_009225.1:p.Leu1439Phe
  • NP_009225.1:p.Leu1439Phe
  • NP_009228.2:p.Leu1392Phe
  • NP_009229.2:p.Leu336Phe
  • NP_009229.2:p.Leu336Phe
  • NP_009230.2:p.Leu336Phe
  • NP_009231.2:p.Leu1439Phe
  • NP_009235.2:p.Leu336Phe
  • LRG_292t1:c.4315C>T
  • LRG_292:g.135538C>T
  • LRG_292p1:p.Leu1439Phe
  • NC_000017.10:g.41234463G>A
  • NM_007294.3:c.4315C>T
  • NM_007298.3:c.1006C>T
  • NR_027676.2:n.4492C>T
Protein change:
L1143F
Links:
dbSNP: rs781260818
NCBI 1000 Genomes Browser:
rs781260818
Molecular consequence:
  • NM_001407571.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4303C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4303C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4237C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4237C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4237C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4234C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4237C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4237C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4231C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4231C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4234C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4234C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4234C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4186C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4186C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4186C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4186C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4186C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4168C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4168C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4168C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4312C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4114C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4111C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4111C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4105C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4105C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4105C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4105C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4105C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4105C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4105C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4105C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4105C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4105C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4105C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4105C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4099C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4051C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4051C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4051C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4051C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4051C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4051C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4051C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4051C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4051C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4051C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4045C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4048C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4192C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4189C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3982C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3982C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3982C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3982C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3982C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3982C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3979C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3979C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3979C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3979C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3976C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3979C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3979C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3934C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3934C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3931C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3931C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4171C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3808C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3427C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1711C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1708C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.997C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1000C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.997C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.928C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.928C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.928C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.928C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.928C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.886C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.886C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.886C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.883C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.871C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.862C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.859C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.805C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.802C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.805C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.766C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.763C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.742C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.742C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.742C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.742C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.742C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.742C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.673C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.679C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.676C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.667C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.667C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.625C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.793C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.796C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4492C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000277556Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 8, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV000909271Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 12, 2023) 		germlineclinical testing

PubMed (4)
[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

Identification of genetic variants for clinical management of familial colorectal tumors.

Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E.

BMC Med Genet. 2018 Feb 20;19(1):26. doi: 10.1186/s12881-018-0533-9.

PubMed [citation]
PMID:
29458332
PMCID:
PMC5819082

Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.

Hovland HN, Mchaina EK, Høberg-Vetti H, Ariansen SL, Sjursen W, Van Ghelue M, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E.

Genes (Basel). 2023 Jan 19;14(2). doi:pii: 262. 10.3390/genes14020262.

PubMed [citation]
PMID:
36833189
PMCID:
PMC9957003
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000277556.6

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

Description

The p.L1439F variant (also known as c.4315C>T), located in coding exon 11 of the BRCA1 gene, results from a C to T substitution at nucleotide position 4315. The leucine at codon 1439 is replaced by phenylalanine, an amino acid with highly similar properties. This alteration was identified in an individual with colorectal cancer meeting Bethesda or Amsterdam Criteria (Dominguez-Valentin M et al. BMC Med. Genet., 2018 02;19:26). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

From Color Diagnostics, LLC DBA Color Health, SCV000909271.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This missense variant replaces leucine with phenylalanine at codon 1439 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Functional studies have shown that this variant results in decreased protein expression, stability, and BARD1 interaction, as well as decreased homologous recombination repair activity, but does not impact transcriptional activation activity (PMID: 36833189, 37085799). To our knowledge, this variant has not been reported in individuals affected with BRCA1-related disorders in the literature. This variant has been reported in an individual affected with colorectal cancer (PMID: 29458332). This variant has been identified in 3/251406 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 8, 2024