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NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 15, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000444773.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val)]

NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val)

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.4213A>G (p.Ile1405Val)
HGVS:
  • NC_000017.11:g.43082548T>C
  • NG_005905.2:g.135436A>G
  • NM_001407571.1:c.4000A>G
  • NM_001407581.1:c.4213A>G
  • NM_001407582.1:c.4213A>G
  • NM_001407583.1:c.4213A>G
  • NM_001407585.1:c.4213A>G
  • NM_001407587.1:c.4210A>G
  • NM_001407590.1:c.4210A>G
  • NM_001407591.1:c.4210A>G
  • NM_001407593.1:c.4213A>G
  • NM_001407594.1:c.4213A>G
  • NM_001407596.1:c.4213A>G
  • NM_001407597.1:c.4213A>G
  • NM_001407598.1:c.4213A>G
  • NM_001407602.1:c.4213A>G
  • NM_001407603.1:c.4213A>G
  • NM_001407605.1:c.4213A>G
  • NM_001407610.1:c.4210A>G
  • NM_001407611.1:c.4210A>G
  • NM_001407612.1:c.4210A>G
  • NM_001407613.1:c.4210A>G
  • NM_001407614.1:c.4210A>G
  • NM_001407615.1:c.4210A>G
  • NM_001407616.1:c.4213A>G
  • NM_001407617.1:c.4213A>G
  • NM_001407618.1:c.4213A>G
  • NM_001407619.1:c.4213A>G
  • NM_001407620.1:c.4213A>G
  • NM_001407621.1:c.4213A>G
  • NM_001407622.1:c.4213A>G
  • NM_001407623.1:c.4213A>G
  • NM_001407624.1:c.4210A>G
  • NM_001407625.1:c.4210A>G
  • NM_001407626.1:c.4210A>G
  • NM_001407627.1:c.4207A>G
  • NM_001407628.1:c.4207A>G
  • NM_001407629.1:c.4207A>G
  • NM_001407630.1:c.4207A>G
  • NM_001407631.1:c.4207A>G
  • NM_001407632.1:c.4207A>G
  • NM_001407633.1:c.4210A>G
  • NM_001407634.1:c.4210A>G
  • NM_001407635.1:c.4210A>G
  • NM_001407636.1:c.4210A>G
  • NM_001407637.1:c.4210A>G
  • NM_001407638.1:c.4210A>G
  • NM_001407639.1:c.4210A>G
  • NM_001407640.1:c.4210A>G
  • NM_001407641.1:c.4210A>G
  • NM_001407642.1:c.4210A>G
  • NM_001407644.1:c.4207A>G
  • NM_001407645.1:c.4207A>G
  • NM_001407646.1:c.4201A>G
  • NM_001407647.1:c.4201A>G
  • NM_001407648.1:c.4090A>G
  • NM_001407649.1:c.4087A>G
  • NM_001407652.1:c.4213A>G
  • NM_001407653.1:c.4135A>G
  • NM_001407654.1:c.4135A>G
  • NM_001407655.1:c.4135A>G
  • NM_001407656.1:c.4132A>G
  • NM_001407657.1:c.4135A>G
  • NM_001407658.1:c.4135A>G
  • NM_001407659.1:c.4129A>G
  • NM_001407660.1:c.4129A>G
  • NM_001407661.1:c.4132A>G
  • NM_001407662.1:c.4132A>G
  • NM_001407663.1:c.4132A>G
  • NM_001407664.1:c.4090A>G
  • NM_001407665.1:c.4090A>G
  • NM_001407666.1:c.4090A>G
  • NM_001407667.1:c.4090A>G
  • NM_001407668.1:c.4090A>G
  • NM_001407669.1:c.4090A>G
  • NM_001407670.1:c.4087A>G
  • NM_001407671.1:c.4087A>G
  • NM_001407672.1:c.4087A>G
  • NM_001407673.1:c.4087A>G
  • NM_001407674.1:c.4087A>G
  • NM_001407675.1:c.4087A>G
  • NM_001407676.1:c.4087A>G
  • NM_001407677.1:c.4090A>G
  • NM_001407678.1:c.4090A>G
  • NM_001407679.1:c.4090A>G
  • NM_001407680.1:c.4090A>G
  • NM_001407681.1:c.4087A>G
  • NM_001407682.1:c.4087A>G
  • NM_001407683.1:c.4087A>G
  • NM_001407684.1:c.4213A>G
  • NM_001407685.1:c.4084A>G
  • NM_001407686.1:c.4084A>G
  • NM_001407687.1:c.4084A>G
  • NM_001407688.1:c.4087A>G
  • NM_001407689.1:c.4087A>G
  • NM_001407690.1:c.4084A>G
  • NM_001407691.1:c.4084A>G
  • NM_001407692.1:c.4072A>G
  • NM_001407694.1:c.4072A>G
  • NM_001407695.1:c.4072A>G
  • NM_001407696.1:c.4072A>G
  • NM_001407697.1:c.4072A>G
  • NM_001407698.1:c.4072A>G
  • NM_001407724.1:c.4072A>G
  • NM_001407725.1:c.4072A>G
  • NM_001407726.1:c.4072A>G
  • NM_001407727.1:c.4072A>G
  • NM_001407728.1:c.4072A>G
  • NM_001407729.1:c.4072A>G
  • NM_001407730.1:c.4072A>G
  • NM_001407731.1:c.4072A>G
  • NM_001407732.1:c.4072A>G
  • NM_001407733.1:c.4072A>G
  • NM_001407734.1:c.4072A>G
  • NM_001407735.1:c.4072A>G
  • NM_001407736.1:c.4072A>G
  • NM_001407737.1:c.4072A>G
  • NM_001407738.1:c.4072A>G
  • NM_001407739.1:c.4072A>G
  • NM_001407740.1:c.4069A>G
  • NM_001407741.1:c.4069A>G
  • NM_001407742.1:c.4069A>G
  • NM_001407743.1:c.4069A>G
  • NM_001407744.1:c.4069A>G
  • NM_001407745.1:c.4069A>G
  • NM_001407746.1:c.4069A>G
  • NM_001407747.1:c.4069A>G
  • NM_001407748.1:c.4069A>G
  • NM_001407749.1:c.4069A>G
  • NM_001407750.1:c.4069A>G
  • NM_001407751.1:c.4069A>G
  • NM_001407752.1:c.4069A>G
  • NM_001407838.1:c.4069A>G
  • NM_001407839.1:c.4069A>G
  • NM_001407841.1:c.4069A>G
  • NM_001407842.1:c.4069A>G
  • NM_001407843.1:c.4069A>G
  • NM_001407844.1:c.4069A>G
  • NM_001407845.1:c.4069A>G
  • NM_001407846.1:c.4069A>G
  • NM_001407847.1:c.4066A>G
  • NM_001407848.1:c.4066A>G
  • NM_001407849.1:c.4066A>G
  • NM_001407850.1:c.4069A>G
  • NM_001407851.1:c.4069A>G
  • NM_001407852.1:c.4069A>G
  • NM_001407853.1:c.4000A>G
  • NM_001407854.1:c.4213A>G
  • NM_001407858.1:c.4213A>G
  • NM_001407859.1:c.4213A>G
  • NM_001407860.1:c.4210A>G
  • NM_001407861.1:c.4210A>G
  • NM_001407862.1:c.4012A>G
  • NM_001407863.1:c.4090A>G
  • NM_001407874.1:c.4009A>G
  • NM_001407875.1:c.4009A>G
  • NM_001407879.1:c.4003A>G
  • NM_001407881.1:c.4003A>G
  • NM_001407882.1:c.4003A>G
  • NM_001407884.1:c.4003A>G
  • NM_001407885.1:c.4003A>G
  • NM_001407886.1:c.4003A>G
  • NM_001407887.1:c.4003A>G
  • NM_001407889.1:c.4003A>G
  • NM_001407894.1:c.4000A>G
  • NM_001407895.1:c.4000A>G
  • NM_001407896.1:c.4000A>G
  • NM_001407897.1:c.4000A>G
  • NM_001407898.1:c.4000A>G
  • NM_001407899.1:c.4000A>G
  • NM_001407900.1:c.4003A>G
  • NM_001407902.1:c.4003A>G
  • NM_001407904.1:c.4003A>G
  • NM_001407906.1:c.4003A>G
  • NM_001407907.1:c.4000A>G
  • NM_001407908.1:c.4000A>G
  • NM_001407909.1:c.4000A>G
  • NM_001407910.1:c.4000A>G
  • NM_001407915.1:c.3997A>G
  • NM_001407916.1:c.4000A>G
  • NM_001407917.1:c.4000A>G
  • NM_001407918.1:c.4000A>G
  • NM_001407919.1:c.4090A>G
  • NM_001407920.1:c.3949A>G
  • NM_001407921.1:c.3949A>G
  • NM_001407922.1:c.3949A>G
  • NM_001407923.1:c.3949A>G
  • NM_001407924.1:c.3949A>G
  • NM_001407925.1:c.3949A>G
  • NM_001407926.1:c.3949A>G
  • NM_001407927.1:c.3949A>G
  • NM_001407928.1:c.3949A>G
  • NM_001407929.1:c.3949A>G
  • NM_001407930.1:c.3946A>G
  • NM_001407931.1:c.3946A>G
  • NM_001407932.1:c.3946A>G
  • NM_001407933.1:c.3946A>G
  • NM_001407934.1:c.3943A>G
  • NM_001407935.1:c.3946A>G
  • NM_001407936.1:c.3946A>G
  • NM_001407937.1:c.4090A>G
  • NM_001407938.1:c.4090A>G
  • NM_001407939.1:c.4090A>G
  • NM_001407940.1:c.4087A>G
  • NM_001407941.1:c.4087A>G
  • NM_001407942.1:c.4072A>G
  • NM_001407943.1:c.4069A>G
  • NM_001407944.1:c.4072A>G
  • NM_001407945.1:c.4072A>G
  • NM_001407946.1:c.3880A>G
  • NM_001407947.1:c.3880A>G
  • NM_001407948.1:c.3880A>G
  • NM_001407949.1:c.3880A>G
  • NM_001407950.1:c.3880A>G
  • NM_001407951.1:c.3880A>G
  • NM_001407952.1:c.3877A>G
  • NM_001407953.1:c.3877A>G
  • NM_001407954.1:c.3877A>G
  • NM_001407955.1:c.3877A>G
  • NM_001407956.1:c.3874A>G
  • NM_001407957.1:c.3877A>G
  • NM_001407958.1:c.3877A>G
  • NM_001407959.1:c.3832A>G
  • NM_001407960.1:c.3832A>G
  • NM_001407962.1:c.3829A>G
  • NM_001407963.1:c.3829A>G
  • NM_001407964.1:c.4069A>G
  • NM_001407965.1:c.3706A>G
  • NM_001407966.1:c.3325A>G
  • NM_001407967.1:c.3325A>G
  • NM_001407968.1:c.1609A>G
  • NM_001407969.1:c.1606A>G
  • NM_001407970.1:c.904A>G
  • NM_001407971.1:c.904A>G
  • NM_001407972.1:c.901A>G
  • NM_001407973.1:c.904A>G
  • NM_001407974.1:c.904A>G
  • NM_001407975.1:c.904A>G
  • NM_001407976.1:c.904A>G
  • NM_001407977.1:c.904A>G
  • NM_001407978.1:c.904A>G
  • NM_001407979.1:c.901A>G
  • NM_001407980.1:c.901A>G
  • NM_001407981.1:c.901A>G
  • NM_001407982.1:c.901A>G
  • NM_001407983.1:c.901A>G
  • NM_001407984.1:c.901A>G
  • NM_001407985.1:c.901A>G
  • NM_001407986.1:c.901A>G
  • NM_001407990.1:c.901A>G
  • NM_001407991.1:c.901A>G
  • NM_001407992.1:c.901A>G
  • NM_001407993.1:c.904A>G
  • NM_001408392.1:c.901A>G
  • NM_001408396.1:c.901A>G
  • NM_001408397.1:c.901A>G
  • NM_001408398.1:c.901A>G
  • NM_001408399.1:c.901A>G
  • NM_001408400.1:c.898A>G
  • NM_001408401.1:c.898A>G
  • NM_001408402.1:c.898A>G
  • NM_001408403.1:c.901A>G
  • NM_001408404.1:c.901A>G
  • NM_001408406.1:c.895A>G
  • NM_001408407.1:c.898A>G
  • NM_001408408.1:c.895A>G
  • NM_001408409.1:c.826A>G
  • NM_001408410.1:c.763A>G
  • NM_001408411.1:c.826A>G
  • NM_001408412.1:c.826A>G
  • NM_001408413.1:c.823A>G
  • NM_001408414.1:c.826A>G
  • NM_001408415.1:c.826A>G
  • NM_001408416.1:c.823A>G
  • NM_001408418.1:c.787A>G
  • NM_001408419.1:c.787A>G
  • NM_001408420.1:c.787A>G
  • NM_001408421.1:c.784A>G
  • NM_001408422.1:c.787A>G
  • NM_001408423.1:c.787A>G
  • NM_001408424.1:c.784A>G
  • NM_001408425.1:c.781A>G
  • NM_001408426.1:c.781A>G
  • NM_001408427.1:c.781A>G
  • NM_001408428.1:c.781A>G
  • NM_001408429.1:c.781A>G
  • NM_001408430.1:c.781A>G
  • NM_001408431.1:c.784A>G
  • NM_001408432.1:c.778A>G
  • NM_001408433.1:c.778A>G
  • NM_001408434.1:c.778A>G
  • NM_001408435.1:c.778A>G
  • NM_001408436.1:c.781A>G
  • NM_001408437.1:c.781A>G
  • NM_001408438.1:c.781A>G
  • NM_001408439.1:c.781A>G
  • NM_001408440.1:c.781A>G
  • NM_001408441.1:c.778A>G
  • NM_001408442.1:c.778A>G
  • NM_001408443.1:c.778A>G
  • NM_001408444.1:c.778A>G
  • NM_001408445.1:c.778A>G
  • NM_001408446.1:c.778A>G
  • NM_001408447.1:c.778A>G
  • NM_001408448.1:c.778A>G
  • NM_001408450.1:c.778A>G
  • NM_001408451.1:c.769A>G
  • NM_001408452.1:c.763A>G
  • NM_001408453.1:c.763A>G
  • NM_001408454.1:c.763A>G
  • NM_001408455.1:c.763A>G
  • NM_001408456.1:c.763A>G
  • NM_001408457.1:c.763A>G
  • NM_001408458.1:c.763A>G
  • NM_001408459.1:c.763A>G
  • NM_001408460.1:c.763A>G
  • NM_001408461.1:c.763A>G
  • NM_001408462.1:c.760A>G
  • NM_001408463.1:c.760A>G
  • NM_001408464.1:c.760A>G
  • NM_001408465.1:c.760A>G
  • NM_001408466.1:c.760A>G
  • NM_001408467.1:c.760A>G
  • NM_001408468.1:c.760A>G
  • NM_001408469.1:c.760A>G
  • NM_001408470.1:c.757A>G
  • NM_001408472.1:c.901A>G
  • NM_001408473.1:c.901A>G
  • NM_001408474.1:c.703A>G
  • NM_001408475.1:c.700A>G
  • NM_001408476.1:c.703A>G
  • NM_001408478.1:c.694A>G
  • NM_001408479.1:c.694A>G
  • NM_001408480.1:c.694A>G
  • NM_001408481.1:c.694A>G
  • NM_001408482.1:c.694A>G
  • NM_001408483.1:c.694A>G
  • NM_001408484.1:c.694A>G
  • NM_001408485.1:c.694A>G
  • NM_001408489.1:c.691A>G
  • NM_001408490.1:c.691A>G
  • NM_001408491.1:c.691A>G
  • NM_001408492.1:c.691A>G
  • NM_001408493.1:c.691A>G
  • NM_001408494.1:c.664A>G
  • NM_001408495.1:c.661A>G
  • NM_001408496.1:c.640A>G
  • NM_001408497.1:c.640A>G
  • NM_001408498.1:c.640A>G
  • NM_001408499.1:c.640A>G
  • NM_001408500.1:c.640A>G
  • NM_001408501.1:c.640A>G
  • NM_001408502.1:c.571A>G
  • NM_001408503.1:c.637A>G
  • NM_001408504.1:c.637A>G
  • NM_001408505.1:c.637A>G
  • NM_001408506.1:c.577A>G
  • NM_001408507.1:c.574A>G
  • NM_001408508.1:c.565A>G
  • NM_001408509.1:c.565A>G
  • NM_001408510.1:c.523A>G
  • NM_001408511.1:c.520A>G
  • NM_001408512.1:c.400A>G
  • NM_001408513.1:c.691A>G
  • NM_001408514.1:c.694A>G
  • NM_007294.4:c.4213A>GMANE SELECT
  • NM_007297.4:c.4072A>G
  • NM_007298.4:c.904A>G
  • NM_007299.4:c.904A>G
  • NM_007300.4:c.4213A>G
  • NM_007304.2:c.904A>G
  • NP_001394500.1:p.Ile1334Val
  • NP_001394510.1:p.Ile1405Val
  • NP_001394511.1:p.Ile1405Val
  • NP_001394512.1:p.Ile1405Val
  • NP_001394514.1:p.Ile1405Val
  • NP_001394516.1:p.Ile1404Val
  • NP_001394519.1:p.Ile1404Val
  • NP_001394520.1:p.Ile1404Val
  • NP_001394522.1:p.Ile1405Val
  • NP_001394523.1:p.Ile1405Val
  • NP_001394525.1:p.Ile1405Val
  • NP_001394526.1:p.Ile1405Val
  • NP_001394527.1:p.Ile1405Val
  • NP_001394531.1:p.Ile1405Val
  • NP_001394532.1:p.Ile1405Val
  • NP_001394534.1:p.Ile1405Val
  • NP_001394539.1:p.Ile1404Val
  • NP_001394540.1:p.Ile1404Val
  • NP_001394541.1:p.Ile1404Val
  • NP_001394542.1:p.Ile1404Val
  • NP_001394543.1:p.Ile1404Val
  • NP_001394544.1:p.Ile1404Val
  • NP_001394545.1:p.Ile1405Val
  • NP_001394546.1:p.Ile1405Val
  • NP_001394547.1:p.Ile1405Val
  • NP_001394548.1:p.Ile1405Val
  • NP_001394549.1:p.Ile1405Val
  • NP_001394550.1:p.Ile1405Val
  • NP_001394551.1:p.Ile1405Val
  • NP_001394552.1:p.Ile1405Val
  • NP_001394553.1:p.Ile1404Val
  • NP_001394554.1:p.Ile1404Val
  • NP_001394555.1:p.Ile1404Val
  • NP_001394556.1:p.Ile1403Val
  • NP_001394557.1:p.Ile1403Val
  • NP_001394558.1:p.Ile1403Val
  • NP_001394559.1:p.Ile1403Val
  • NP_001394560.1:p.Ile1403Val
  • NP_001394561.1:p.Ile1403Val
  • NP_001394562.1:p.Ile1404Val
  • NP_001394563.1:p.Ile1404Val
  • NP_001394564.1:p.Ile1404Val
  • NP_001394565.1:p.Ile1404Val
  • NP_001394566.1:p.Ile1404Val
  • NP_001394567.1:p.Ile1404Val
  • NP_001394568.1:p.Ile1404Val
  • NP_001394569.1:p.Ile1404Val
  • NP_001394570.1:p.Ile1404Val
  • NP_001394571.1:p.Ile1404Val
  • NP_001394573.1:p.Ile1403Val
  • NP_001394574.1:p.Ile1403Val
  • NP_001394575.1:p.Ile1401Val
  • NP_001394576.1:p.Ile1401Val
  • NP_001394577.1:p.Ile1364Val
  • NP_001394578.1:p.Ile1363Val
  • NP_001394581.1:p.Ile1405Val
  • NP_001394582.1:p.Ile1379Val
  • NP_001394583.1:p.Ile1379Val
  • NP_001394584.1:p.Ile1379Val
  • NP_001394585.1:p.Ile1378Val
  • NP_001394586.1:p.Ile1379Val
  • NP_001394587.1:p.Ile1379Val
  • NP_001394588.1:p.Ile1377Val
  • NP_001394589.1:p.Ile1377Val
  • NP_001394590.1:p.Ile1378Val
  • NP_001394591.1:p.Ile1378Val
  • NP_001394592.1:p.Ile1378Val
  • NP_001394593.1:p.Ile1364Val
  • NP_001394594.1:p.Ile1364Val
  • NP_001394595.1:p.Ile1364Val
  • NP_001394596.1:p.Ile1364Val
  • NP_001394597.1:p.Ile1364Val
  • NP_001394598.1:p.Ile1364Val
  • NP_001394599.1:p.Ile1363Val
  • NP_001394600.1:p.Ile1363Val
  • NP_001394601.1:p.Ile1363Val
  • NP_001394602.1:p.Ile1363Val
  • NP_001394603.1:p.Ile1363Val
  • NP_001394604.1:p.Ile1363Val
  • NP_001394605.1:p.Ile1363Val
  • NP_001394606.1:p.Ile1364Val
  • NP_001394607.1:p.Ile1364Val
  • NP_001394608.1:p.Ile1364Val
  • NP_001394609.1:p.Ile1364Val
  • NP_001394610.1:p.Ile1363Val
  • NP_001394611.1:p.Ile1363Val
  • NP_001394612.1:p.Ile1363Val
  • NP_001394613.1:p.Ile1405Val
  • NP_001394614.1:p.Ile1362Val
  • NP_001394615.1:p.Ile1362Val
  • NP_001394616.1:p.Ile1362Val
  • NP_001394617.1:p.Ile1363Val
  • NP_001394618.1:p.Ile1363Val
  • NP_001394619.1:p.Ile1362Val
  • NP_001394620.1:p.Ile1362Val
  • NP_001394621.1:p.Ile1358Val
  • NP_001394623.1:p.Ile1358Val
  • NP_001394624.1:p.Ile1358Val
  • NP_001394625.1:p.Ile1358Val
  • NP_001394626.1:p.Ile1358Val
  • NP_001394627.1:p.Ile1358Val
  • NP_001394653.1:p.Ile1358Val
  • NP_001394654.1:p.Ile1358Val
  • NP_001394655.1:p.Ile1358Val
  • NP_001394656.1:p.Ile1358Val
  • NP_001394657.1:p.Ile1358Val
  • NP_001394658.1:p.Ile1358Val
  • NP_001394659.1:p.Ile1358Val
  • NP_001394660.1:p.Ile1358Val
  • NP_001394661.1:p.Ile1358Val
  • NP_001394662.1:p.Ile1358Val
  • NP_001394663.1:p.Ile1358Val
  • NP_001394664.1:p.Ile1358Val
  • NP_001394665.1:p.Ile1358Val
  • NP_001394666.1:p.Ile1358Val
  • NP_001394667.1:p.Ile1358Val
  • NP_001394668.1:p.Ile1358Val
  • NP_001394669.1:p.Ile1357Val
  • NP_001394670.1:p.Ile1357Val
  • NP_001394671.1:p.Ile1357Val
  • NP_001394672.1:p.Ile1357Val
  • NP_001394673.1:p.Ile1357Val
  • NP_001394674.1:p.Ile1357Val
  • NP_001394675.1:p.Ile1357Val
  • NP_001394676.1:p.Ile1357Val
  • NP_001394677.1:p.Ile1357Val
  • NP_001394678.1:p.Ile1357Val
  • NP_001394679.1:p.Ile1357Val
  • NP_001394680.1:p.Ile1357Val
  • NP_001394681.1:p.Ile1357Val
  • NP_001394767.1:p.Ile1357Val
  • NP_001394768.1:p.Ile1357Val
  • NP_001394770.1:p.Ile1357Val
  • NP_001394771.1:p.Ile1357Val
  • NP_001394772.1:p.Ile1357Val
  • NP_001394773.1:p.Ile1357Val
  • NP_001394774.1:p.Ile1357Val
  • NP_001394775.1:p.Ile1357Val
  • NP_001394776.1:p.Ile1356Val
  • NP_001394777.1:p.Ile1356Val
  • NP_001394778.1:p.Ile1356Val
  • NP_001394779.1:p.Ile1357Val
  • NP_001394780.1:p.Ile1357Val
  • NP_001394781.1:p.Ile1357Val
  • NP_001394782.1:p.Ile1334Val
  • NP_001394783.1:p.Ile1405Val
  • NP_001394787.1:p.Ile1405Val
  • NP_001394788.1:p.Ile1405Val
  • NP_001394789.1:p.Ile1404Val
  • NP_001394790.1:p.Ile1404Val
  • NP_001394791.1:p.Ile1338Val
  • NP_001394792.1:p.Ile1364Val
  • NP_001394803.1:p.Ile1337Val
  • NP_001394804.1:p.Ile1337Val
  • NP_001394808.1:p.Ile1335Val
  • NP_001394810.1:p.Ile1335Val
  • NP_001394811.1:p.Ile1335Val
  • NP_001394813.1:p.Ile1335Val
  • NP_001394814.1:p.Ile1335Val
  • NP_001394815.1:p.Ile1335Val
  • NP_001394816.1:p.Ile1335Val
  • NP_001394818.1:p.Ile1335Val
  • NP_001394823.1:p.Ile1334Val
  • NP_001394824.1:p.Ile1334Val
  • NP_001394825.1:p.Ile1334Val
  • NP_001394826.1:p.Ile1334Val
  • NP_001394827.1:p.Ile1334Val
  • NP_001394828.1:p.Ile1334Val
  • NP_001394829.1:p.Ile1335Val
  • NP_001394831.1:p.Ile1335Val
  • NP_001394833.1:p.Ile1335Val
  • NP_001394835.1:p.Ile1335Val
  • NP_001394836.1:p.Ile1334Val
  • NP_001394837.1:p.Ile1334Val
  • NP_001394838.1:p.Ile1334Val
  • NP_001394839.1:p.Ile1334Val
  • NP_001394844.1:p.Ile1333Val
  • NP_001394845.1:p.Ile1334Val
  • NP_001394846.1:p.Ile1334Val
  • NP_001394847.1:p.Ile1334Val
  • NP_001394848.1:p.Ile1364Val
  • NP_001394849.1:p.Ile1317Val
  • NP_001394850.1:p.Ile1317Val
  • NP_001394851.1:p.Ile1317Val
  • NP_001394852.1:p.Ile1317Val
  • NP_001394853.1:p.Ile1317Val
  • NP_001394854.1:p.Ile1317Val
  • NP_001394855.1:p.Ile1317Val
  • NP_001394856.1:p.Ile1317Val
  • NP_001394857.1:p.Ile1317Val
  • NP_001394858.1:p.Ile1317Val
  • NP_001394859.1:p.Ile1316Val
  • NP_001394860.1:p.Ile1316Val
  • NP_001394861.1:p.Ile1316Val
  • NP_001394862.1:p.Ile1316Val
  • NP_001394863.1:p.Ile1315Val
  • NP_001394864.1:p.Ile1316Val
  • NP_001394865.1:p.Ile1316Val
  • NP_001394866.1:p.Ile1364Val
  • NP_001394867.1:p.Ile1364Val
  • NP_001394868.1:p.Ile1364Val
  • NP_001394869.1:p.Ile1363Val
  • NP_001394870.1:p.Ile1363Val
  • NP_001394871.1:p.Ile1358Val
  • NP_001394872.1:p.Ile1357Val
  • NP_001394873.1:p.Ile1358Val
  • NP_001394874.1:p.Ile1358Val
  • NP_001394875.1:p.Ile1294Val
  • NP_001394876.1:p.Ile1294Val
  • NP_001394877.1:p.Ile1294Val
  • NP_001394878.1:p.Ile1294Val
  • NP_001394879.1:p.Ile1294Val
  • NP_001394880.1:p.Ile1294Val
  • NP_001394881.1:p.Ile1293Val
  • NP_001394882.1:p.Ile1293Val
  • NP_001394883.1:p.Ile1293Val
  • NP_001394884.1:p.Ile1293Val
  • NP_001394885.1:p.Ile1292Val
  • NP_001394886.1:p.Ile1293Val
  • NP_001394887.1:p.Ile1293Val
  • NP_001394888.1:p.Ile1278Val
  • NP_001394889.1:p.Ile1278Val
  • NP_001394891.1:p.Ile1277Val
  • NP_001394892.1:p.Ile1277Val
  • NP_001394893.1:p.Ile1357Val
  • NP_001394894.1:p.Ile1236Val
  • NP_001394895.1:p.Ile1109Val
  • NP_001394896.1:p.Ile1109Val
  • NP_001394897.1:p.Ile537Val
  • NP_001394898.1:p.Ile536Val
  • NP_001394899.1:p.Ile302Val
  • NP_001394900.1:p.Ile302Val
  • NP_001394901.1:p.Ile301Val
  • NP_001394902.1:p.Ile302Val
  • NP_001394903.1:p.Ile302Val
  • NP_001394904.1:p.Ile302Val
  • NP_001394905.1:p.Ile302Val
  • NP_001394906.1:p.Ile302Val
  • NP_001394907.1:p.Ile302Val
  • NP_001394908.1:p.Ile301Val
  • NP_001394909.1:p.Ile301Val
  • NP_001394910.1:p.Ile301Val
  • NP_001394911.1:p.Ile301Val
  • NP_001394912.1:p.Ile301Val
  • NP_001394913.1:p.Ile301Val
  • NP_001394914.1:p.Ile301Val
  • NP_001394915.1:p.Ile301Val
  • NP_001394919.1:p.Ile301Val
  • NP_001394920.1:p.Ile301Val
  • NP_001394921.1:p.Ile301Val
  • NP_001394922.1:p.Ile302Val
  • NP_001395321.1:p.Ile301Val
  • NP_001395325.1:p.Ile301Val
  • NP_001395326.1:p.Ile301Val
  • NP_001395327.1:p.Ile301Val
  • NP_001395328.1:p.Ile301Val
  • NP_001395329.1:p.Ile300Val
  • NP_001395330.1:p.Ile300Val
  • NP_001395331.1:p.Ile300Val
  • NP_001395332.1:p.Ile301Val
  • NP_001395333.1:p.Ile301Val
  • NP_001395335.1:p.Ile299Val
  • NP_001395336.1:p.Ile300Val
  • NP_001395337.1:p.Ile299Val
  • NP_001395338.1:p.Ile276Val
  • NP_001395339.1:p.Ile255Val
  • NP_001395340.1:p.Ile276Val
  • NP_001395341.1:p.Ile276Val
  • NP_001395342.1:p.Ile275Val
  • NP_001395343.1:p.Ile276Val
  • NP_001395344.1:p.Ile276Val
  • NP_001395345.1:p.Ile275Val
  • NP_001395347.1:p.Ile263Val
  • NP_001395348.1:p.Ile263Val
  • NP_001395349.1:p.Ile263Val
  • NP_001395350.1:p.Ile262Val
  • NP_001395351.1:p.Ile263Val
  • NP_001395352.1:p.Ile263Val
  • NP_001395353.1:p.Ile262Val
  • NP_001395354.1:p.Ile261Val
  • NP_001395355.1:p.Ile261Val
  • NP_001395356.1:p.Ile261Val
  • NP_001395357.1:p.Ile261Val
  • NP_001395358.1:p.Ile261Val
  • NP_001395359.1:p.Ile261Val
  • NP_001395360.1:p.Ile262Val
  • NP_001395361.1:p.Ile260Val
  • NP_001395362.1:p.Ile260Val
  • NP_001395363.1:p.Ile260Val
  • NP_001395364.1:p.Ile260Val
  • NP_001395365.1:p.Ile261Val
  • NP_001395366.1:p.Ile261Val
  • NP_001395367.1:p.Ile261Val
  • NP_001395368.1:p.Ile261Val
  • NP_001395369.1:p.Ile261Val
  • NP_001395370.1:p.Ile260Val
  • NP_001395371.1:p.Ile260Val
  • NP_001395372.1:p.Ile260Val
  • NP_001395373.1:p.Ile260Val
  • NP_001395374.1:p.Ile260Val
  • NP_001395375.1:p.Ile260Val
  • NP_001395376.1:p.Ile260Val
  • NP_001395377.1:p.Ile260Val
  • NP_001395379.1:p.Ile260Val
  • NP_001395380.1:p.Ile257Val
  • NP_001395381.1:p.Ile255Val
  • NP_001395382.1:p.Ile255Val
  • NP_001395383.1:p.Ile255Val
  • NP_001395384.1:p.Ile255Val
  • NP_001395385.1:p.Ile255Val
  • NP_001395386.1:p.Ile255Val
  • NP_001395387.1:p.Ile255Val
  • NP_001395388.1:p.Ile255Val
  • NP_001395389.1:p.Ile255Val
  • NP_001395390.1:p.Ile255Val
  • NP_001395391.1:p.Ile254Val
  • NP_001395392.1:p.Ile254Val
  • NP_001395393.1:p.Ile254Val
  • NP_001395394.1:p.Ile254Val
  • NP_001395395.1:p.Ile254Val
  • NP_001395396.1:p.Ile254Val
  • NP_001395397.1:p.Ile254Val
  • NP_001395398.1:p.Ile254Val
  • NP_001395399.1:p.Ile253Val
  • NP_001395401.1:p.Ile301Val
  • NP_001395402.1:p.Ile301Val
  • NP_001395403.1:p.Ile235Val
  • NP_001395404.1:p.Ile234Val
  • NP_001395405.1:p.Ile235Val
  • NP_001395407.1:p.Ile232Val
  • NP_001395408.1:p.Ile232Val
  • NP_001395409.1:p.Ile232Val
  • NP_001395410.1:p.Ile232Val
  • NP_001395411.1:p.Ile232Val
  • NP_001395412.1:p.Ile232Val
  • NP_001395413.1:p.Ile232Val
  • NP_001395414.1:p.Ile232Val
  • NP_001395418.1:p.Ile231Val
  • NP_001395419.1:p.Ile231Val
  • NP_001395420.1:p.Ile231Val
  • NP_001395421.1:p.Ile231Val
  • NP_001395422.1:p.Ile231Val
  • NP_001395423.1:p.Ile222Val
  • NP_001395424.1:p.Ile221Val
  • NP_001395425.1:p.Ile214Val
  • NP_001395426.1:p.Ile214Val
  • NP_001395427.1:p.Ile214Val
  • NP_001395428.1:p.Ile214Val
  • NP_001395429.1:p.Ile214Val
  • NP_001395430.1:p.Ile214Val
  • NP_001395431.1:p.Ile191Val
  • NP_001395432.1:p.Ile213Val
  • NP_001395433.1:p.Ile213Val
  • NP_001395434.1:p.Ile213Val
  • NP_001395435.1:p.Ile193Val
  • NP_001395436.1:p.Ile192Val
  • NP_001395437.1:p.Ile189Val
  • NP_001395438.1:p.Ile189Val
  • NP_001395439.1:p.Ile175Val
  • NP_001395440.1:p.Ile174Val
  • NP_001395441.1:p.Ile134Val
  • NP_001395442.1:p.Ile231Val
  • NP_001395443.1:p.Ile232Val
  • NP_009225.1:p.Ile1405Val
  • NP_009225.1:p.Ile1405Val
  • NP_009228.2:p.Ile1358Val
  • NP_009229.2:p.Ile302Val
  • NP_009229.2:p.Ile302Val
  • NP_009230.2:p.Ile302Val
  • NP_009231.2:p.Ile1405Val
  • NP_009235.2:p.Ile302Val
  • LRG_292t1:c.4213A>G
  • LRG_292:g.135436A>G
  • LRG_292p1:p.Ile1405Val
  • NC_000017.10:g.41234565T>C
  • NM_007294.3:c.4213A>G
  • NM_007298.3:c.904A>G
  • NR_027676.2:n.4390A>G
  • U14680.1:n.4332A>G
Nucleotide change:
4332A>G
Protein change:
I1109V
Links:
dbSNP: rs80357353
NCBI 1000 Genomes Browser:
rs80357353
Molecular consequence:
  • NM_001407571.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4207A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4207A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4207A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4207A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4207A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4207A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4207A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4207A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4201A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4201A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4135A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4135A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4135A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4132A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4135A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4135A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4129A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4129A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4132A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4132A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4132A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4084A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4084A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4084A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4084A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4084A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4066A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4012A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4009A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4009A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4003A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4003A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4003A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4003A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4003A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4003A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4003A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4003A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4003A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4003A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4003A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4003A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3949A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3949A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3949A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3949A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3949A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3949A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3949A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3949A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3949A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3949A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3946A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3946A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3946A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3946A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3943A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3946A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3946A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4087A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3880A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3880A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3880A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3880A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3880A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3880A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3877A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3877A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3877A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3877A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3874A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3877A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3877A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3832A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3832A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3829A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3325A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3325A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1609A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1606A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.898A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.898A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.898A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.895A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.898A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.895A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.826A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.826A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.826A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.826A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.826A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.823A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.784A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.781A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.778A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.769A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.763A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.760A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.760A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.760A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.760A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.760A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.760A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.760A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.760A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.757A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.703A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.700A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.703A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.694A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.694A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.694A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.694A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.694A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.694A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.694A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.694A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.691A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.691A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.691A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.691A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.691A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.661A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.571A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.577A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.574A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.565A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.565A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.523A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.520A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.691A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.694A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4072A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4213A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.904A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4390A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000916735Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Jan 15, 2021) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.

J Med Genet. 2004 Jul;41(7):492-507.

PubMed [citation]
PMID:
15235020
PMCID:
PMC1735826

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.

Am J Hum Genet. 2007 Nov;81(5):873-83. Epub 2007 Sep 6.

PubMed [citation]
PMID:
17924331
PMCID:
PMC2265654
See all PubMed Citations (7)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000916735.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

Variant summary: BRCA1 c.4213A>G (p.Ile1405Val) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.3e-05 in 348962 control chromosomes (gnomAD and publications), predominantly at a frequency of 0.00039 within the South Asian subpopulation in the gnomAD database. This frequency is not significantly higher than expected for a pathogenic variant in BRCA1 causing Hereditary Breast And Ovarian Cancer Syndrome (4.3e-05 vs 0.001), allowing no conclusion about variant significance. c.4213A>G has been reported in the literature in individuals affected with breast and/or ovarian cancer (e.g. Easton_2007, Shimelis_2017, Santonocito_2019). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Several publications report experimental evidence evaluating an impact on protein function by measuring transcriptional activity in a yeast-based system, and when combined with computational algorithms predicting variant effects, classified the variant as "likely not pathogenic" (e.g. Woods_2016, Fernandes_2019). Six other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, citing the variant as likely benign (n=5) and uncertain significance (n=1). Based on the evidence outlined above, the variant was classified as likely benign.

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

Last Updated: Nov 10, 2024