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NM_007294.4(BRCA1):c.4319A>G (p.Glu1440Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 12, 2016
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:
RCV000237052.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.4319A>G (p.Glu1440Gly)]

NM_007294.4(BRCA1):c.4319A>G (p.Glu1440Gly)

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.4319A>G (p.Glu1440Gly)
HGVS:
  • NC_000017.11:g.43082442T>C
  • NG_005905.2:g.135542A>G
  • NM_001407571.1:c.4106A>G
  • NM_001407581.1:c.4319A>G
  • NM_001407582.1:c.4319A>G
  • NM_001407583.1:c.4319A>G
  • NM_001407585.1:c.4319A>G
  • NM_001407587.1:c.4316A>G
  • NM_001407590.1:c.4316A>G
  • NM_001407591.1:c.4316A>G
  • NM_001407593.1:c.4319A>G
  • NM_001407594.1:c.4319A>G
  • NM_001407596.1:c.4319A>G
  • NM_001407597.1:c.4319A>G
  • NM_001407598.1:c.4319A>G
  • NM_001407602.1:c.4319A>G
  • NM_001407603.1:c.4319A>G
  • NM_001407605.1:c.4319A>G
  • NM_001407610.1:c.4316A>G
  • NM_001407611.1:c.4316A>G
  • NM_001407612.1:c.4316A>G
  • NM_001407613.1:c.4316A>G
  • NM_001407614.1:c.4316A>G
  • NM_001407615.1:c.4316A>G
  • NM_001407616.1:c.4319A>G
  • NM_001407617.1:c.4319A>G
  • NM_001407618.1:c.4319A>G
  • NM_001407619.1:c.4319A>G
  • NM_001407620.1:c.4319A>G
  • NM_001407621.1:c.4319A>G
  • NM_001407622.1:c.4319A>G
  • NM_001407623.1:c.4319A>G
  • NM_001407624.1:c.4316A>G
  • NM_001407625.1:c.4316A>G
  • NM_001407626.1:c.4316A>G
  • NM_001407627.1:c.4313A>G
  • NM_001407628.1:c.4313A>G
  • NM_001407629.1:c.4313A>G
  • NM_001407630.1:c.4313A>G
  • NM_001407631.1:c.4313A>G
  • NM_001407632.1:c.4313A>G
  • NM_001407633.1:c.4316A>G
  • NM_001407634.1:c.4316A>G
  • NM_001407635.1:c.4316A>G
  • NM_001407636.1:c.4316A>G
  • NM_001407637.1:c.4316A>G
  • NM_001407638.1:c.4316A>G
  • NM_001407639.1:c.4316A>G
  • NM_001407640.1:c.4316A>G
  • NM_001407641.1:c.4316A>G
  • NM_001407642.1:c.4316A>G
  • NM_001407644.1:c.4313A>G
  • NM_001407645.1:c.4313A>G
  • NM_001407646.1:c.4307A>G
  • NM_001407647.1:c.4307A>G
  • NM_001407648.1:c.4196A>G
  • NM_001407649.1:c.4193A>G
  • NM_001407652.1:c.4319A>G
  • NM_001407653.1:c.4241A>G
  • NM_001407654.1:c.4241A>G
  • NM_001407655.1:c.4241A>G
  • NM_001407656.1:c.4238A>G
  • NM_001407657.1:c.4241A>G
  • NM_001407658.1:c.4241A>G
  • NM_001407659.1:c.4235A>G
  • NM_001407660.1:c.4235A>G
  • NM_001407661.1:c.4238A>G
  • NM_001407662.1:c.4238A>G
  • NM_001407663.1:c.4238A>G
  • NM_001407664.1:c.4196A>G
  • NM_001407665.1:c.4196A>G
  • NM_001407666.1:c.4196A>G
  • NM_001407667.1:c.4196A>G
  • NM_001407668.1:c.4196A>G
  • NM_001407669.1:c.4196A>G
  • NM_001407670.1:c.4193A>G
  • NM_001407671.1:c.4193A>G
  • NM_001407672.1:c.4193A>G
  • NM_001407673.1:c.4193A>G
  • NM_001407674.1:c.4193A>G
  • NM_001407675.1:c.4193A>G
  • NM_001407676.1:c.4193A>G
  • NM_001407677.1:c.4196A>G
  • NM_001407678.1:c.4196A>G
  • NM_001407679.1:c.4196A>G
  • NM_001407680.1:c.4196A>G
  • NM_001407681.1:c.4193A>G
  • NM_001407682.1:c.4193A>G
  • NM_001407683.1:c.4193A>G
  • NM_001407684.1:c.4319A>G
  • NM_001407685.1:c.4190A>G
  • NM_001407686.1:c.4190A>G
  • NM_001407687.1:c.4190A>G
  • NM_001407688.1:c.4193A>G
  • NM_001407689.1:c.4193A>G
  • NM_001407690.1:c.4190A>G
  • NM_001407691.1:c.4190A>G
  • NM_001407692.1:c.4178A>G
  • NM_001407694.1:c.4178A>G
  • NM_001407695.1:c.4178A>G
  • NM_001407696.1:c.4178A>G
  • NM_001407697.1:c.4178A>G
  • NM_001407698.1:c.4178A>G
  • NM_001407724.1:c.4178A>G
  • NM_001407725.1:c.4178A>G
  • NM_001407726.1:c.4178A>G
  • NM_001407727.1:c.4178A>G
  • NM_001407728.1:c.4178A>G
  • NM_001407729.1:c.4178A>G
  • NM_001407730.1:c.4178A>G
  • NM_001407731.1:c.4178A>G
  • NM_001407732.1:c.4178A>G
  • NM_001407733.1:c.4178A>G
  • NM_001407734.1:c.4178A>G
  • NM_001407735.1:c.4178A>G
  • NM_001407736.1:c.4178A>G
  • NM_001407737.1:c.4178A>G
  • NM_001407738.1:c.4178A>G
  • NM_001407739.1:c.4178A>G
  • NM_001407740.1:c.4175A>G
  • NM_001407741.1:c.4175A>G
  • NM_001407742.1:c.4175A>G
  • NM_001407743.1:c.4175A>G
  • NM_001407744.1:c.4175A>G
  • NM_001407745.1:c.4175A>G
  • NM_001407746.1:c.4175A>G
  • NM_001407747.1:c.4175A>G
  • NM_001407748.1:c.4175A>G
  • NM_001407749.1:c.4175A>G
  • NM_001407750.1:c.4175A>G
  • NM_001407751.1:c.4175A>G
  • NM_001407752.1:c.4175A>G
  • NM_001407838.1:c.4175A>G
  • NM_001407839.1:c.4175A>G
  • NM_001407841.1:c.4175A>G
  • NM_001407842.1:c.4175A>G
  • NM_001407843.1:c.4175A>G
  • NM_001407844.1:c.4175A>G
  • NM_001407845.1:c.4175A>G
  • NM_001407846.1:c.4175A>G
  • NM_001407847.1:c.4172A>G
  • NM_001407848.1:c.4172A>G
  • NM_001407849.1:c.4172A>G
  • NM_001407850.1:c.4175A>G
  • NM_001407851.1:c.4175A>G
  • NM_001407852.1:c.4175A>G
  • NM_001407853.1:c.4106A>G
  • NM_001407854.1:c.4319A>G
  • NM_001407858.1:c.4319A>G
  • NM_001407859.1:c.4319A>G
  • NM_001407860.1:c.4316A>G
  • NM_001407861.1:c.4316A>G
  • NM_001407862.1:c.4118A>G
  • NM_001407863.1:c.4196A>G
  • NM_001407874.1:c.4115A>G
  • NM_001407875.1:c.4115A>G
  • NM_001407879.1:c.4109A>G
  • NM_001407881.1:c.4109A>G
  • NM_001407882.1:c.4109A>G
  • NM_001407884.1:c.4109A>G
  • NM_001407885.1:c.4109A>G
  • NM_001407886.1:c.4109A>G
  • NM_001407887.1:c.4109A>G
  • NM_001407889.1:c.4109A>G
  • NM_001407894.1:c.4106A>G
  • NM_001407895.1:c.4106A>G
  • NM_001407896.1:c.4106A>G
  • NM_001407897.1:c.4106A>G
  • NM_001407898.1:c.4106A>G
  • NM_001407899.1:c.4106A>G
  • NM_001407900.1:c.4109A>G
  • NM_001407902.1:c.4109A>G
  • NM_001407904.1:c.4109A>G
  • NM_001407906.1:c.4109A>G
  • NM_001407907.1:c.4106A>G
  • NM_001407908.1:c.4106A>G
  • NM_001407909.1:c.4106A>G
  • NM_001407910.1:c.4106A>G
  • NM_001407915.1:c.4103A>G
  • NM_001407916.1:c.4106A>G
  • NM_001407917.1:c.4106A>G
  • NM_001407918.1:c.4106A>G
  • NM_001407919.1:c.4196A>G
  • NM_001407920.1:c.4055A>G
  • NM_001407921.1:c.4055A>G
  • NM_001407922.1:c.4055A>G
  • NM_001407923.1:c.4055A>G
  • NM_001407924.1:c.4055A>G
  • NM_001407925.1:c.4055A>G
  • NM_001407926.1:c.4055A>G
  • NM_001407927.1:c.4055A>G
  • NM_001407928.1:c.4055A>G
  • NM_001407929.1:c.4055A>G
  • NM_001407930.1:c.4052A>G
  • NM_001407931.1:c.4052A>G
  • NM_001407932.1:c.4052A>G
  • NM_001407933.1:c.4052A>G
  • NM_001407934.1:c.4049A>G
  • NM_001407935.1:c.4052A>G
  • NM_001407936.1:c.4052A>G
  • NM_001407937.1:c.4196A>G
  • NM_001407938.1:c.4196A>G
  • NM_001407939.1:c.4196A>G
  • NM_001407940.1:c.4193A>G
  • NM_001407941.1:c.4193A>G
  • NM_001407942.1:c.4178A>G
  • NM_001407943.1:c.4175A>G
  • NM_001407944.1:c.4178A>G
  • NM_001407945.1:c.4178A>G
  • NM_001407946.1:c.3986A>G
  • NM_001407947.1:c.3986A>G
  • NM_001407948.1:c.3986A>G
  • NM_001407949.1:c.3986A>G
  • NM_001407950.1:c.3986A>G
  • NM_001407951.1:c.3986A>G
  • NM_001407952.1:c.3983A>G
  • NM_001407953.1:c.3983A>G
  • NM_001407954.1:c.3983A>G
  • NM_001407955.1:c.3983A>G
  • NM_001407956.1:c.3980A>G
  • NM_001407957.1:c.3983A>G
  • NM_001407958.1:c.3983A>G
  • NM_001407959.1:c.3938A>G
  • NM_001407960.1:c.3938A>G
  • NM_001407962.1:c.3935A>G
  • NM_001407963.1:c.3935A>G
  • NM_001407964.1:c.4175A>G
  • NM_001407965.1:c.3812A>G
  • NM_001407966.1:c.3431A>G
  • NM_001407967.1:c.3431A>G
  • NM_001407968.1:c.1715A>G
  • NM_001407969.1:c.1712A>G
  • NM_001407970.1:c.1010A>G
  • NM_001407971.1:c.1010A>G
  • NM_001407972.1:c.1007A>G
  • NM_001407973.1:c.1010A>G
  • NM_001407974.1:c.1010A>G
  • NM_001407975.1:c.1010A>G
  • NM_001407976.1:c.1010A>G
  • NM_001407977.1:c.1010A>G
  • NM_001407978.1:c.1010A>G
  • NM_001407979.1:c.1007A>G
  • NM_001407980.1:c.1007A>G
  • NM_001407981.1:c.1007A>G
  • NM_001407982.1:c.1007A>G
  • NM_001407983.1:c.1007A>G
  • NM_001407984.1:c.1007A>G
  • NM_001407985.1:c.1007A>G
  • NM_001407986.1:c.1007A>G
  • NM_001407990.1:c.1007A>G
  • NM_001407991.1:c.1007A>G
  • NM_001407992.1:c.1007A>G
  • NM_001407993.1:c.1010A>G
  • NM_001408392.1:c.1007A>G
  • NM_001408396.1:c.1007A>G
  • NM_001408397.1:c.1007A>G
  • NM_001408398.1:c.1007A>G
  • NM_001408399.1:c.1007A>G
  • NM_001408400.1:c.1004A>G
  • NM_001408401.1:c.1004A>G
  • NM_001408402.1:c.1004A>G
  • NM_001408403.1:c.1007A>G
  • NM_001408404.1:c.1007A>G
  • NM_001408406.1:c.1001A>G
  • NM_001408407.1:c.1004A>G
  • NM_001408408.1:c.1001A>G
  • NM_001408409.1:c.932A>G
  • NM_001408410.1:c.869A>G
  • NM_001408411.1:c.932A>G
  • NM_001408412.1:c.932A>G
  • NM_001408413.1:c.929A>G
  • NM_001408414.1:c.932A>G
  • NM_001408415.1:c.932A>G
  • NM_001408416.1:c.929A>G
  • NM_001408418.1:c.893A>G
  • NM_001408419.1:c.893A>G
  • NM_001408420.1:c.893A>G
  • NM_001408421.1:c.890A>G
  • NM_001408422.1:c.893A>G
  • NM_001408423.1:c.893A>G
  • NM_001408424.1:c.890A>G
  • NM_001408425.1:c.887A>G
  • NM_001408426.1:c.887A>G
  • NM_001408427.1:c.887A>G
  • NM_001408428.1:c.887A>G
  • NM_001408429.1:c.887A>G
  • NM_001408430.1:c.887A>G
  • NM_001408431.1:c.890A>G
  • NM_001408432.1:c.884A>G
  • NM_001408433.1:c.884A>G
  • NM_001408434.1:c.884A>G
  • NM_001408435.1:c.884A>G
  • NM_001408436.1:c.887A>G
  • NM_001408437.1:c.887A>G
  • NM_001408438.1:c.887A>G
  • NM_001408439.1:c.887A>G
  • NM_001408440.1:c.887A>G
  • NM_001408441.1:c.884A>G
  • NM_001408442.1:c.884A>G
  • NM_001408443.1:c.884A>G
  • NM_001408444.1:c.884A>G
  • NM_001408445.1:c.884A>G
  • NM_001408446.1:c.884A>G
  • NM_001408447.1:c.884A>G
  • NM_001408448.1:c.884A>G
  • NM_001408450.1:c.884A>G
  • NM_001408451.1:c.875A>G
  • NM_001408452.1:c.869A>G
  • NM_001408453.1:c.869A>G
  • NM_001408454.1:c.869A>G
  • NM_001408455.1:c.869A>G
  • NM_001408456.1:c.869A>G
  • NM_001408457.1:c.869A>G
  • NM_001408458.1:c.869A>G
  • NM_001408459.1:c.869A>G
  • NM_001408460.1:c.869A>G
  • NM_001408461.1:c.869A>G
  • NM_001408462.1:c.866A>G
  • NM_001408463.1:c.866A>G
  • NM_001408464.1:c.866A>G
  • NM_001408465.1:c.866A>G
  • NM_001408466.1:c.866A>G
  • NM_001408467.1:c.866A>G
  • NM_001408468.1:c.866A>G
  • NM_001408469.1:c.866A>G
  • NM_001408470.1:c.863A>G
  • NM_001408472.1:c.1007A>G
  • NM_001408473.1:c.1007A>G
  • NM_001408474.1:c.809A>G
  • NM_001408475.1:c.806A>G
  • NM_001408476.1:c.809A>G
  • NM_001408478.1:c.800A>G
  • NM_001408479.1:c.800A>G
  • NM_001408480.1:c.800A>G
  • NM_001408481.1:c.800A>G
  • NM_001408482.1:c.800A>G
  • NM_001408483.1:c.800A>G
  • NM_001408484.1:c.800A>G
  • NM_001408485.1:c.800A>G
  • NM_001408489.1:c.797A>G
  • NM_001408490.1:c.797A>G
  • NM_001408491.1:c.797A>G
  • NM_001408492.1:c.797A>G
  • NM_001408493.1:c.797A>G
  • NM_001408494.1:c.770A>G
  • NM_001408495.1:c.767A>G
  • NM_001408496.1:c.746A>G
  • NM_001408497.1:c.746A>G
  • NM_001408498.1:c.746A>G
  • NM_001408499.1:c.746A>G
  • NM_001408500.1:c.746A>G
  • NM_001408501.1:c.746A>G
  • NM_001408502.1:c.677A>G
  • NM_001408503.1:c.743A>G
  • NM_001408504.1:c.743A>G
  • NM_001408505.1:c.743A>G
  • NM_001408506.1:c.683A>G
  • NM_001408507.1:c.680A>G
  • NM_001408508.1:c.671A>G
  • NM_001408509.1:c.671A>G
  • NM_001408510.1:c.629A>G
  • NM_001408511.1:c.626A>G
  • NM_001408512.1:c.506A>G
  • NM_001408513.1:c.797A>G
  • NM_001408514.1:c.800A>G
  • NM_007294.4:c.4319A>GMANE SELECT
  • NM_007297.4:c.4178A>G
  • NM_007298.4:c.1010A>G
  • NM_007299.4:c.1010A>G
  • NM_007300.4:c.4319A>G
  • NM_007304.2:c.1010A>G
  • NP_001394500.1:p.Glu1369Gly
  • NP_001394510.1:p.Glu1440Gly
  • NP_001394511.1:p.Glu1440Gly
  • NP_001394512.1:p.Glu1440Gly
  • NP_001394514.1:p.Glu1440Gly
  • NP_001394516.1:p.Glu1439Gly
  • NP_001394519.1:p.Glu1439Gly
  • NP_001394520.1:p.Glu1439Gly
  • NP_001394522.1:p.Glu1440Gly
  • NP_001394523.1:p.Glu1440Gly
  • NP_001394525.1:p.Glu1440Gly
  • NP_001394526.1:p.Glu1440Gly
  • NP_001394527.1:p.Glu1440Gly
  • NP_001394531.1:p.Glu1440Gly
  • NP_001394532.1:p.Glu1440Gly
  • NP_001394534.1:p.Glu1440Gly
  • NP_001394539.1:p.Glu1439Gly
  • NP_001394540.1:p.Glu1439Gly
  • NP_001394541.1:p.Glu1439Gly
  • NP_001394542.1:p.Glu1439Gly
  • NP_001394543.1:p.Glu1439Gly
  • NP_001394544.1:p.Glu1439Gly
  • NP_001394545.1:p.Glu1440Gly
  • NP_001394546.1:p.Glu1440Gly
  • NP_001394547.1:p.Glu1440Gly
  • NP_001394548.1:p.Glu1440Gly
  • NP_001394549.1:p.Glu1440Gly
  • NP_001394550.1:p.Glu1440Gly
  • NP_001394551.1:p.Glu1440Gly
  • NP_001394552.1:p.Glu1440Gly
  • NP_001394553.1:p.Glu1439Gly
  • NP_001394554.1:p.Glu1439Gly
  • NP_001394555.1:p.Glu1439Gly
  • NP_001394556.1:p.Glu1438Gly
  • NP_001394557.1:p.Glu1438Gly
  • NP_001394558.1:p.Glu1438Gly
  • NP_001394559.1:p.Glu1438Gly
  • NP_001394560.1:p.Glu1438Gly
  • NP_001394561.1:p.Glu1438Gly
  • NP_001394562.1:p.Glu1439Gly
  • NP_001394563.1:p.Glu1439Gly
  • NP_001394564.1:p.Glu1439Gly
  • NP_001394565.1:p.Glu1439Gly
  • NP_001394566.1:p.Glu1439Gly
  • NP_001394567.1:p.Glu1439Gly
  • NP_001394568.1:p.Glu1439Gly
  • NP_001394569.1:p.Glu1439Gly
  • NP_001394570.1:p.Glu1439Gly
  • NP_001394571.1:p.Glu1439Gly
  • NP_001394573.1:p.Glu1438Gly
  • NP_001394574.1:p.Glu1438Gly
  • NP_001394575.1:p.Glu1436Gly
  • NP_001394576.1:p.Glu1436Gly
  • NP_001394577.1:p.Glu1399Gly
  • NP_001394578.1:p.Glu1398Gly
  • NP_001394581.1:p.Glu1440Gly
  • NP_001394582.1:p.Glu1414Gly
  • NP_001394583.1:p.Glu1414Gly
  • NP_001394584.1:p.Glu1414Gly
  • NP_001394585.1:p.Glu1413Gly
  • NP_001394586.1:p.Glu1414Gly
  • NP_001394587.1:p.Glu1414Gly
  • NP_001394588.1:p.Glu1412Gly
  • NP_001394589.1:p.Glu1412Gly
  • NP_001394590.1:p.Glu1413Gly
  • NP_001394591.1:p.Glu1413Gly
  • NP_001394592.1:p.Glu1413Gly
  • NP_001394593.1:p.Glu1399Gly
  • NP_001394594.1:p.Glu1399Gly
  • NP_001394595.1:p.Glu1399Gly
  • NP_001394596.1:p.Glu1399Gly
  • NP_001394597.1:p.Glu1399Gly
  • NP_001394598.1:p.Glu1399Gly
  • NP_001394599.1:p.Glu1398Gly
  • NP_001394600.1:p.Glu1398Gly
  • NP_001394601.1:p.Glu1398Gly
  • NP_001394602.1:p.Glu1398Gly
  • NP_001394603.1:p.Glu1398Gly
  • NP_001394604.1:p.Glu1398Gly
  • NP_001394605.1:p.Glu1398Gly
  • NP_001394606.1:p.Glu1399Gly
  • NP_001394607.1:p.Glu1399Gly
  • NP_001394608.1:p.Glu1399Gly
  • NP_001394609.1:p.Glu1399Gly
  • NP_001394610.1:p.Glu1398Gly
  • NP_001394611.1:p.Glu1398Gly
  • NP_001394612.1:p.Glu1398Gly
  • NP_001394613.1:p.Glu1440Gly
  • NP_001394614.1:p.Glu1397Gly
  • NP_001394615.1:p.Glu1397Gly
  • NP_001394616.1:p.Glu1397Gly
  • NP_001394617.1:p.Glu1398Gly
  • NP_001394618.1:p.Glu1398Gly
  • NP_001394619.1:p.Glu1397Gly
  • NP_001394620.1:p.Glu1397Gly
  • NP_001394621.1:p.Glu1393Gly
  • NP_001394623.1:p.Glu1393Gly
  • NP_001394624.1:p.Glu1393Gly
  • NP_001394625.1:p.Glu1393Gly
  • NP_001394626.1:p.Glu1393Gly
  • NP_001394627.1:p.Glu1393Gly
  • NP_001394653.1:p.Glu1393Gly
  • NP_001394654.1:p.Glu1393Gly
  • NP_001394655.1:p.Glu1393Gly
  • NP_001394656.1:p.Glu1393Gly
  • NP_001394657.1:p.Glu1393Gly
  • NP_001394658.1:p.Glu1393Gly
  • NP_001394659.1:p.Glu1393Gly
  • NP_001394660.1:p.Glu1393Gly
  • NP_001394661.1:p.Glu1393Gly
  • NP_001394662.1:p.Glu1393Gly
  • NP_001394663.1:p.Glu1393Gly
  • NP_001394664.1:p.Glu1393Gly
  • NP_001394665.1:p.Glu1393Gly
  • NP_001394666.1:p.Glu1393Gly
  • NP_001394667.1:p.Glu1393Gly
  • NP_001394668.1:p.Glu1393Gly
  • NP_001394669.1:p.Glu1392Gly
  • NP_001394670.1:p.Glu1392Gly
  • NP_001394671.1:p.Glu1392Gly
  • NP_001394672.1:p.Glu1392Gly
  • NP_001394673.1:p.Glu1392Gly
  • NP_001394674.1:p.Glu1392Gly
  • NP_001394675.1:p.Glu1392Gly
  • NP_001394676.1:p.Glu1392Gly
  • NP_001394677.1:p.Glu1392Gly
  • NP_001394678.1:p.Glu1392Gly
  • NP_001394679.1:p.Glu1392Gly
  • NP_001394680.1:p.Glu1392Gly
  • NP_001394681.1:p.Glu1392Gly
  • NP_001394767.1:p.Glu1392Gly
  • NP_001394768.1:p.Glu1392Gly
  • NP_001394770.1:p.Glu1392Gly
  • NP_001394771.1:p.Glu1392Gly
  • NP_001394772.1:p.Glu1392Gly
  • NP_001394773.1:p.Glu1392Gly
  • NP_001394774.1:p.Glu1392Gly
  • NP_001394775.1:p.Glu1392Gly
  • NP_001394776.1:p.Glu1391Gly
  • NP_001394777.1:p.Glu1391Gly
  • NP_001394778.1:p.Glu1391Gly
  • NP_001394779.1:p.Glu1392Gly
  • NP_001394780.1:p.Glu1392Gly
  • NP_001394781.1:p.Glu1392Gly
  • NP_001394782.1:p.Glu1369Gly
  • NP_001394783.1:p.Glu1440Gly
  • NP_001394787.1:p.Glu1440Gly
  • NP_001394788.1:p.Glu1440Gly
  • NP_001394789.1:p.Glu1439Gly
  • NP_001394790.1:p.Glu1439Gly
  • NP_001394791.1:p.Glu1373Gly
  • NP_001394792.1:p.Glu1399Gly
  • NP_001394803.1:p.Glu1372Gly
  • NP_001394804.1:p.Glu1372Gly
  • NP_001394808.1:p.Glu1370Gly
  • NP_001394810.1:p.Glu1370Gly
  • NP_001394811.1:p.Glu1370Gly
  • NP_001394813.1:p.Glu1370Gly
  • NP_001394814.1:p.Glu1370Gly
  • NP_001394815.1:p.Glu1370Gly
  • NP_001394816.1:p.Glu1370Gly
  • NP_001394818.1:p.Glu1370Gly
  • NP_001394823.1:p.Glu1369Gly
  • NP_001394824.1:p.Glu1369Gly
  • NP_001394825.1:p.Glu1369Gly
  • NP_001394826.1:p.Glu1369Gly
  • NP_001394827.1:p.Glu1369Gly
  • NP_001394828.1:p.Glu1369Gly
  • NP_001394829.1:p.Glu1370Gly
  • NP_001394831.1:p.Glu1370Gly
  • NP_001394833.1:p.Glu1370Gly
  • NP_001394835.1:p.Glu1370Gly
  • NP_001394836.1:p.Glu1369Gly
  • NP_001394837.1:p.Glu1369Gly
  • NP_001394838.1:p.Glu1369Gly
  • NP_001394839.1:p.Glu1369Gly
  • NP_001394844.1:p.Glu1368Gly
  • NP_001394845.1:p.Glu1369Gly
  • NP_001394846.1:p.Glu1369Gly
  • NP_001394847.1:p.Glu1369Gly
  • NP_001394848.1:p.Glu1399Gly
  • NP_001394849.1:p.Glu1352Gly
  • NP_001394850.1:p.Glu1352Gly
  • NP_001394851.1:p.Glu1352Gly
  • NP_001394852.1:p.Glu1352Gly
  • NP_001394853.1:p.Glu1352Gly
  • NP_001394854.1:p.Glu1352Gly
  • NP_001394855.1:p.Glu1352Gly
  • NP_001394856.1:p.Glu1352Gly
  • NP_001394857.1:p.Glu1352Gly
  • NP_001394858.1:p.Glu1352Gly
  • NP_001394859.1:p.Glu1351Gly
  • NP_001394860.1:p.Glu1351Gly
  • NP_001394861.1:p.Glu1351Gly
  • NP_001394862.1:p.Glu1351Gly
  • NP_001394863.1:p.Glu1350Gly
  • NP_001394864.1:p.Glu1351Gly
  • NP_001394865.1:p.Glu1351Gly
  • NP_001394866.1:p.Glu1399Gly
  • NP_001394867.1:p.Glu1399Gly
  • NP_001394868.1:p.Glu1399Gly
  • NP_001394869.1:p.Glu1398Gly
  • NP_001394870.1:p.Glu1398Gly
  • NP_001394871.1:p.Glu1393Gly
  • NP_001394872.1:p.Glu1392Gly
  • NP_001394873.1:p.Glu1393Gly
  • NP_001394874.1:p.Glu1393Gly
  • NP_001394875.1:p.Glu1329Gly
  • NP_001394876.1:p.Glu1329Gly
  • NP_001394877.1:p.Glu1329Gly
  • NP_001394878.1:p.Glu1329Gly
  • NP_001394879.1:p.Glu1329Gly
  • NP_001394880.1:p.Glu1329Gly
  • NP_001394881.1:p.Glu1328Gly
  • NP_001394882.1:p.Glu1328Gly
  • NP_001394883.1:p.Glu1328Gly
  • NP_001394884.1:p.Glu1328Gly
  • NP_001394885.1:p.Glu1327Gly
  • NP_001394886.1:p.Glu1328Gly
  • NP_001394887.1:p.Glu1328Gly
  • NP_001394888.1:p.Glu1313Gly
  • NP_001394889.1:p.Glu1313Gly
  • NP_001394891.1:p.Glu1312Gly
  • NP_001394892.1:p.Glu1312Gly
  • NP_001394893.1:p.Glu1392Gly
  • NP_001394894.1:p.Glu1271Gly
  • NP_001394895.1:p.Glu1144Gly
  • NP_001394896.1:p.Glu1144Gly
  • NP_001394897.1:p.Glu572Gly
  • NP_001394898.1:p.Glu571Gly
  • NP_001394899.1:p.Glu337Gly
  • NP_001394900.1:p.Glu337Gly
  • NP_001394901.1:p.Glu336Gly
  • NP_001394902.1:p.Glu337Gly
  • NP_001394903.1:p.Glu337Gly
  • NP_001394904.1:p.Glu337Gly
  • NP_001394905.1:p.Glu337Gly
  • NP_001394906.1:p.Glu337Gly
  • NP_001394907.1:p.Glu337Gly
  • NP_001394908.1:p.Glu336Gly
  • NP_001394909.1:p.Glu336Gly
  • NP_001394910.1:p.Glu336Gly
  • NP_001394911.1:p.Glu336Gly
  • NP_001394912.1:p.Glu336Gly
  • NP_001394913.1:p.Glu336Gly
  • NP_001394914.1:p.Glu336Gly
  • NP_001394915.1:p.Glu336Gly
  • NP_001394919.1:p.Glu336Gly
  • NP_001394920.1:p.Glu336Gly
  • NP_001394921.1:p.Glu336Gly
  • NP_001394922.1:p.Glu337Gly
  • NP_001395321.1:p.Glu336Gly
  • NP_001395325.1:p.Glu336Gly
  • NP_001395326.1:p.Glu336Gly
  • NP_001395327.1:p.Glu336Gly
  • NP_001395328.1:p.Glu336Gly
  • NP_001395329.1:p.Glu335Gly
  • NP_001395330.1:p.Glu335Gly
  • NP_001395331.1:p.Glu335Gly
  • NP_001395332.1:p.Glu336Gly
  • NP_001395333.1:p.Glu336Gly
  • NP_001395335.1:p.Glu334Gly
  • NP_001395336.1:p.Glu335Gly
  • NP_001395337.1:p.Glu334Gly
  • NP_001395338.1:p.Glu311Gly
  • NP_001395339.1:p.Glu290Gly
  • NP_001395340.1:p.Glu311Gly
  • NP_001395341.1:p.Glu311Gly
  • NP_001395342.1:p.Glu310Gly
  • NP_001395343.1:p.Glu311Gly
  • NP_001395344.1:p.Glu311Gly
  • NP_001395345.1:p.Glu310Gly
  • NP_001395347.1:p.Glu298Gly
  • NP_001395348.1:p.Glu298Gly
  • NP_001395349.1:p.Glu298Gly
  • NP_001395350.1:p.Glu297Gly
  • NP_001395351.1:p.Glu298Gly
  • NP_001395352.1:p.Glu298Gly
  • NP_001395353.1:p.Glu297Gly
  • NP_001395354.1:p.Glu296Gly
  • NP_001395355.1:p.Glu296Gly
  • NP_001395356.1:p.Glu296Gly
  • NP_001395357.1:p.Glu296Gly
  • NP_001395358.1:p.Glu296Gly
  • NP_001395359.1:p.Glu296Gly
  • NP_001395360.1:p.Glu297Gly
  • NP_001395361.1:p.Glu295Gly
  • NP_001395362.1:p.Glu295Gly
  • NP_001395363.1:p.Glu295Gly
  • NP_001395364.1:p.Glu295Gly
  • NP_001395365.1:p.Glu296Gly
  • NP_001395366.1:p.Glu296Gly
  • NP_001395367.1:p.Glu296Gly
  • NP_001395368.1:p.Glu296Gly
  • NP_001395369.1:p.Glu296Gly
  • NP_001395370.1:p.Glu295Gly
  • NP_001395371.1:p.Glu295Gly
  • NP_001395372.1:p.Glu295Gly
  • NP_001395373.1:p.Glu295Gly
  • NP_001395374.1:p.Glu295Gly
  • NP_001395375.1:p.Glu295Gly
  • NP_001395376.1:p.Glu295Gly
  • NP_001395377.1:p.Glu295Gly
  • NP_001395379.1:p.Glu295Gly
  • NP_001395380.1:p.Glu292Gly
  • NP_001395381.1:p.Glu290Gly
  • NP_001395382.1:p.Glu290Gly
  • NP_001395383.1:p.Glu290Gly
  • NP_001395384.1:p.Glu290Gly
  • NP_001395385.1:p.Glu290Gly
  • NP_001395386.1:p.Glu290Gly
  • NP_001395387.1:p.Glu290Gly
  • NP_001395388.1:p.Glu290Gly
  • NP_001395389.1:p.Glu290Gly
  • NP_001395390.1:p.Glu290Gly
  • NP_001395391.1:p.Glu289Gly
  • NP_001395392.1:p.Glu289Gly
  • NP_001395393.1:p.Glu289Gly
  • NP_001395394.1:p.Glu289Gly
  • NP_001395395.1:p.Glu289Gly
  • NP_001395396.1:p.Glu289Gly
  • NP_001395397.1:p.Glu289Gly
  • NP_001395398.1:p.Glu289Gly
  • NP_001395399.1:p.Glu288Gly
  • NP_001395401.1:p.Glu336Gly
  • NP_001395402.1:p.Glu336Gly
  • NP_001395403.1:p.Glu270Gly
  • NP_001395404.1:p.Glu269Gly
  • NP_001395405.1:p.Glu270Gly
  • NP_001395407.1:p.Glu267Gly
  • NP_001395408.1:p.Glu267Gly
  • NP_001395409.1:p.Glu267Gly
  • NP_001395410.1:p.Glu267Gly
  • NP_001395411.1:p.Glu267Gly
  • NP_001395412.1:p.Glu267Gly
  • NP_001395413.1:p.Glu267Gly
  • NP_001395414.1:p.Glu267Gly
  • NP_001395418.1:p.Glu266Gly
  • NP_001395419.1:p.Glu266Gly
  • NP_001395420.1:p.Glu266Gly
  • NP_001395421.1:p.Glu266Gly
  • NP_001395422.1:p.Glu266Gly
  • NP_001395423.1:p.Glu257Gly
  • NP_001395424.1:p.Glu256Gly
  • NP_001395425.1:p.Glu249Gly
  • NP_001395426.1:p.Glu249Gly
  • NP_001395427.1:p.Glu249Gly
  • NP_001395428.1:p.Glu249Gly
  • NP_001395429.1:p.Glu249Gly
  • NP_001395430.1:p.Glu249Gly
  • NP_001395431.1:p.Glu226Gly
  • NP_001395432.1:p.Glu248Gly
  • NP_001395433.1:p.Glu248Gly
  • NP_001395434.1:p.Glu248Gly
  • NP_001395435.1:p.Glu228Gly
  • NP_001395436.1:p.Glu227Gly
  • NP_001395437.1:p.Glu224Gly
  • NP_001395438.1:p.Glu224Gly
  • NP_001395439.1:p.Glu210Gly
  • NP_001395440.1:p.Glu209Gly
  • NP_001395441.1:p.Glu169Gly
  • NP_001395442.1:p.Glu266Gly
  • NP_001395443.1:p.Glu267Gly
  • NP_009225.1:p.Glu1440Gly
  • NP_009225.1:p.Glu1440Gly
  • NP_009228.2:p.Glu1393Gly
  • NP_009229.2:p.Glu337Gly
  • NP_009229.2:p.Glu337Gly
  • NP_009230.2:p.Glu337Gly
  • NP_009231.2:p.Glu1440Gly
  • NP_009235.2:p.Glu337Gly
  • LRG_292t1:c.4319A>G
  • LRG_292:g.135542A>G
  • LRG_292p1:p.Glu1440Gly
  • NC_000017.10:g.41234459T>C
  • NM_007294.3:c.4319A>G
  • NM_007298.3:c.1010A>G
  • NR_027676.2:n.4496A>G
  • p.E1440G
Protein change:
E1144G
Links:
dbSNP: rs786202288
NCBI 1000 Genomes Browser:
rs786202288
Molecular consequence:
  • NM_001407571.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4313A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4307A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4307A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4241A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4241A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4241A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4238A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4241A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4241A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4235A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4235A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4238A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4238A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4238A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4190A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4190A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4190A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4190A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4190A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4172A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4172A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4172A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4316A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4118A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4115A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4115A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4109A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4049A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4196A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4193A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3986A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3986A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3986A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3986A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3986A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3986A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3980A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3938A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3935A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4175A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3812A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3431A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3431A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1715A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1004A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1004A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1004A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1001A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1004A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1001A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.929A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.893A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.890A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.884A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.869A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.863A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.809A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.806A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.809A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.770A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.767A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.746A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.746A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.746A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.746A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.746A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.746A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.677A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.743A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.743A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.743A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.683A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.680A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.671A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.671A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.629A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.626A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.506A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.797A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4496A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000293962GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Feb 12, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000293962.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is denoted BRCA1 c.4319A>G at the cDNA level, p.Glu1440Gly (E1440G) at the protein level, and results in the change of a Glutamic Acid to a Glycine (GAG>GGG). Using alternate nomenclature, this variant would be defined as BRCA1 4438A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Glu1440Gly was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Glutamic Acid and Glycine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Glu1440Gly occurs at a position that is not conserved and is located in a region known to interact with multiple proteins (Paul 2014). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BRCA1 Glu1440Gly is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024