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NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala) AND Malignant tumor of breast

Germline classification:
Likely benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001353949.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala)]

NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala)

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.3113A>C (p.Glu1038Ala)
HGVS:
  • NC_000017.11:g.43092418T>G
  • NG_005905.2:g.125566A>C
  • NG_087068.1:g.1400T>G
  • NM_001407571.1:c.2900A>C
  • NM_001407581.1:c.3113A>C
  • NM_001407582.1:c.3113A>C
  • NM_001407583.1:c.3113A>C
  • NM_001407585.1:c.3113A>C
  • NM_001407587.1:c.3110A>C
  • NM_001407590.1:c.3110A>C
  • NM_001407591.1:c.3110A>C
  • NM_001407593.1:c.3113A>C
  • NM_001407594.1:c.3113A>C
  • NM_001407596.1:c.3113A>C
  • NM_001407597.1:c.3113A>C
  • NM_001407598.1:c.3113A>C
  • NM_001407602.1:c.3113A>C
  • NM_001407603.1:c.3113A>C
  • NM_001407605.1:c.3113A>C
  • NM_001407610.1:c.3110A>C
  • NM_001407611.1:c.3110A>C
  • NM_001407612.1:c.3110A>C
  • NM_001407613.1:c.3110A>C
  • NM_001407614.1:c.3110A>C
  • NM_001407615.1:c.3110A>C
  • NM_001407616.1:c.3113A>C
  • NM_001407617.1:c.3113A>C
  • NM_001407618.1:c.3113A>C
  • NM_001407619.1:c.3113A>C
  • NM_001407620.1:c.3113A>C
  • NM_001407621.1:c.3113A>C
  • NM_001407622.1:c.3113A>C
  • NM_001407623.1:c.3113A>C
  • NM_001407624.1:c.3113A>C
  • NM_001407625.1:c.3113A>C
  • NM_001407626.1:c.3113A>C
  • NM_001407627.1:c.3110A>C
  • NM_001407628.1:c.3110A>C
  • NM_001407629.1:c.3110A>C
  • NM_001407630.1:c.3110A>C
  • NM_001407631.1:c.3110A>C
  • NM_001407632.1:c.3110A>C
  • NM_001407633.1:c.3110A>C
  • NM_001407634.1:c.3110A>C
  • NM_001407635.1:c.3110A>C
  • NM_001407636.1:c.3110A>C
  • NM_001407637.1:c.3110A>C
  • NM_001407638.1:c.3110A>C
  • NM_001407639.1:c.3113A>C
  • NM_001407640.1:c.3113A>C
  • NM_001407641.1:c.3113A>C
  • NM_001407642.1:c.3113A>C
  • NM_001407644.1:c.3110A>C
  • NM_001407645.1:c.3110A>C
  • NM_001407646.1:c.3104A>C
  • NM_001407647.1:c.3104A>C
  • NM_001407648.1:c.2990A>C
  • NM_001407649.1:c.2987A>C
  • NM_001407652.1:c.3113A>C
  • NM_001407653.1:c.3035A>C
  • NM_001407654.1:c.3035A>C
  • NM_001407655.1:c.3035A>C
  • NM_001407656.1:c.3035A>C
  • NM_001407657.1:c.3035A>C
  • NM_001407658.1:c.3035A>C
  • NM_001407659.1:c.3032A>C
  • NM_001407660.1:c.3032A>C
  • NM_001407661.1:c.3032A>C
  • NM_001407662.1:c.3032A>C
  • NM_001407663.1:c.3035A>C
  • NM_001407664.1:c.2990A>C
  • NM_001407665.1:c.2990A>C
  • NM_001407666.1:c.2990A>C
  • NM_001407667.1:c.2990A>C
  • NM_001407668.1:c.2990A>C
  • NM_001407669.1:c.2990A>C
  • NM_001407670.1:c.2987A>C
  • NM_001407671.1:c.2987A>C
  • NM_001407672.1:c.2987A>C
  • NM_001407673.1:c.2987A>C
  • NM_001407674.1:c.2990A>C
  • NM_001407675.1:c.2990A>C
  • NM_001407676.1:c.2990A>C
  • NM_001407677.1:c.2990A>C
  • NM_001407678.1:c.2990A>C
  • NM_001407679.1:c.2990A>C
  • NM_001407680.1:c.2990A>C
  • NM_001407681.1:c.2990A>C
  • NM_001407682.1:c.2990A>C
  • NM_001407683.1:c.2990A>C
  • NM_001407684.1:c.3113A>C
  • NM_001407685.1:c.2987A>C
  • NM_001407686.1:c.2987A>C
  • NM_001407687.1:c.2987A>C
  • NM_001407688.1:c.2987A>C
  • NM_001407689.1:c.2987A>C
  • NM_001407690.1:c.2987A>C
  • NM_001407691.1:c.2987A>C
  • NM_001407692.1:c.2972A>C
  • NM_001407694.1:c.2972A>C
  • NM_001407695.1:c.2972A>C
  • NM_001407696.1:c.2972A>C
  • NM_001407697.1:c.2972A>C
  • NM_001407698.1:c.2972A>C
  • NM_001407724.1:c.2972A>C
  • NM_001407725.1:c.2972A>C
  • NM_001407726.1:c.2972A>C
  • NM_001407727.1:c.2972A>C
  • NM_001407728.1:c.2972A>C
  • NM_001407729.1:c.2972A>C
  • NM_001407730.1:c.2972A>C
  • NM_001407731.1:c.2972A>C
  • NM_001407732.1:c.2972A>C
  • NM_001407733.1:c.2972A>C
  • NM_001407734.1:c.2972A>C
  • NM_001407735.1:c.2972A>C
  • NM_001407736.1:c.2972A>C
  • NM_001407737.1:c.2972A>C
  • NM_001407738.1:c.2972A>C
  • NM_001407739.1:c.2972A>C
  • NM_001407740.1:c.2969A>C
  • NM_001407741.1:c.2969A>C
  • NM_001407742.1:c.2969A>C
  • NM_001407743.1:c.2969A>C
  • NM_001407744.1:c.2969A>C
  • NM_001407745.1:c.2969A>C
  • NM_001407746.1:c.2969A>C
  • NM_001407747.1:c.2969A>C
  • NM_001407748.1:c.2969A>C
  • NM_001407749.1:c.2969A>C
  • NM_001407750.1:c.2972A>C
  • NM_001407751.1:c.2972A>C
  • NM_001407752.1:c.2972A>C
  • NM_001407838.1:c.2969A>C
  • NM_001407839.1:c.2969A>C
  • NM_001407841.1:c.2969A>C
  • NM_001407842.1:c.2969A>C
  • NM_001407843.1:c.2969A>C
  • NM_001407844.1:c.2969A>C
  • NM_001407845.1:c.2969A>C
  • NM_001407846.1:c.2969A>C
  • NM_001407847.1:c.2969A>C
  • NM_001407848.1:c.2969A>C
  • NM_001407849.1:c.2969A>C
  • NM_001407850.1:c.2972A>C
  • NM_001407851.1:c.2972A>C
  • NM_001407852.1:c.2972A>C
  • NM_001407853.1:c.2900A>C
  • NM_001407854.1:c.3113A>C
  • NM_001407858.1:c.3113A>C
  • NM_001407859.1:c.3113A>C
  • NM_001407860.1:c.3110A>C
  • NM_001407861.1:c.3110A>C
  • NM_001407862.1:c.2912A>C
  • NM_001407863.1:c.2990A>C
  • NM_001407874.1:c.2909A>C
  • NM_001407875.1:c.2909A>C
  • NM_001407879.1:c.2903A>C
  • NM_001407881.1:c.2903A>C
  • NM_001407882.1:c.2903A>C
  • NM_001407884.1:c.2903A>C
  • NM_001407885.1:c.2903A>C
  • NM_001407886.1:c.2903A>C
  • NM_001407887.1:c.2903A>C
  • NM_001407889.1:c.2903A>C
  • NM_001407894.1:c.2900A>C
  • NM_001407895.1:c.2900A>C
  • NM_001407896.1:c.2900A>C
  • NM_001407897.1:c.2900A>C
  • NM_001407898.1:c.2900A>C
  • NM_001407899.1:c.2900A>C
  • NM_001407900.1:c.2903A>C
  • NM_001407902.1:c.2903A>C
  • NM_001407904.1:c.2903A>C
  • NM_001407906.1:c.2903A>C
  • NM_001407907.1:c.2903A>C
  • NM_001407908.1:c.2903A>C
  • NM_001407909.1:c.2903A>C
  • NM_001407910.1:c.2903A>C
  • NM_001407915.1:c.2900A>C
  • NM_001407916.1:c.2900A>C
  • NM_001407917.1:c.2900A>C
  • NM_001407918.1:c.2900A>C
  • NM_001407919.1:c.2990A>C
  • NM_001407920.1:c.2849A>C
  • NM_001407921.1:c.2849A>C
  • NM_001407922.1:c.2849A>C
  • NM_001407923.1:c.2849A>C
  • NM_001407924.1:c.2849A>C
  • NM_001407925.1:c.2849A>C
  • NM_001407926.1:c.2849A>C
  • NM_001407927.1:c.2849A>C
  • NM_001407928.1:c.2849A>C
  • NM_001407929.1:c.2849A>C
  • NM_001407930.1:c.2846A>C
  • NM_001407931.1:c.2846A>C
  • NM_001407932.1:c.2846A>C
  • NM_001407933.1:c.2849A>C
  • NM_001407934.1:c.2846A>C
  • NM_001407935.1:c.2849A>C
  • NM_001407936.1:c.2846A>C
  • NM_001407937.1:c.2990A>C
  • NM_001407938.1:c.2990A>C
  • NM_001407939.1:c.2990A>C
  • NM_001407940.1:c.2987A>C
  • NM_001407941.1:c.2987A>C
  • NM_001407942.1:c.2972A>C
  • NM_001407943.1:c.2969A>C
  • NM_001407944.1:c.2972A>C
  • NM_001407945.1:c.2972A>C
  • NM_001407946.1:c.2780A>C
  • NM_001407947.1:c.2780A>C
  • NM_001407948.1:c.2780A>C
  • NM_001407949.1:c.2780A>C
  • NM_001407950.1:c.2780A>C
  • NM_001407951.1:c.2780A>C
  • NM_001407952.1:c.2780A>C
  • NM_001407953.1:c.2780A>C
  • NM_001407954.1:c.2777A>C
  • NM_001407955.1:c.2777A>C
  • NM_001407956.1:c.2777A>C
  • NM_001407957.1:c.2780A>C
  • NM_001407958.1:c.2777A>C
  • NM_001407959.1:c.2732A>C
  • NM_001407960.1:c.2732A>C
  • NM_001407962.1:c.2729A>C
  • NM_001407963.1:c.2732A>C
  • NM_001407964.1:c.2969A>C
  • NM_001407965.1:c.2609A>C
  • NM_001407966.1:c.2225A>C
  • NM_001407967.1:c.2225A>C
  • NM_001407968.1:c.788-279A>C
  • NM_001407969.1:c.788-279A>C
  • NM_001407970.1:c.788-1386A>C
  • NM_001407971.1:c.788-1386A>C
  • NM_001407972.1:c.785-1386A>C
  • NM_001407973.1:c.788-1386A>C
  • NM_001407974.1:c.788-1386A>C
  • NM_001407975.1:c.788-1386A>C
  • NM_001407976.1:c.788-1386A>C
  • NM_001407977.1:c.788-1386A>C
  • NM_001407978.1:c.788-1386A>C
  • NM_001407979.1:c.788-1386A>C
  • NM_001407980.1:c.788-1386A>C
  • NM_001407981.1:c.788-1386A>C
  • NM_001407982.1:c.788-1386A>C
  • NM_001407983.1:c.788-1386A>C
  • NM_001407984.1:c.785-1386A>C
  • NM_001407985.1:c.785-1386A>C
  • NM_001407986.1:c.785-1386A>C
  • NM_001407990.1:c.788-1386A>C
  • NM_001407991.1:c.785-1386A>C
  • NM_001407992.1:c.785-1386A>C
  • NM_001407993.1:c.788-1386A>C
  • NM_001408392.1:c.785-1386A>C
  • NM_001408396.1:c.785-1386A>C
  • NM_001408397.1:c.785-1386A>C
  • NM_001408398.1:c.785-1386A>C
  • NM_001408399.1:c.785-1386A>C
  • NM_001408400.1:c.785-1386A>C
  • NM_001408401.1:c.785-1386A>C
  • NM_001408402.1:c.785-1386A>C
  • NM_001408403.1:c.788-1386A>C
  • NM_001408404.1:c.788-1386A>C
  • NM_001408406.1:c.791-1395A>C
  • NM_001408407.1:c.785-1386A>C
  • NM_001408408.1:c.779-1386A>C
  • NM_001408409.1:c.710-1386A>C
  • NM_001408410.1:c.647-1386A>C
  • NM_001408411.1:c.710-1386A>C
  • NM_001408412.1:c.710-1386A>C
  • NM_001408413.1:c.707-1386A>C
  • NM_001408414.1:c.710-1386A>C
  • NM_001408415.1:c.710-1386A>C
  • NM_001408416.1:c.707-1386A>C
  • NM_001408418.1:c.671-1386A>C
  • NM_001408419.1:c.671-1386A>C
  • NM_001408420.1:c.671-1386A>C
  • NM_001408421.1:c.668-1386A>C
  • NM_001408422.1:c.671-1386A>C
  • NM_001408423.1:c.671-1386A>C
  • NM_001408424.1:c.668-1386A>C
  • NM_001408425.1:c.665-1386A>C
  • NM_001408426.1:c.665-1386A>C
  • NM_001408427.1:c.665-1386A>C
  • NM_001408428.1:c.665-1386A>C
  • NM_001408429.1:c.665-1386A>C
  • NM_001408430.1:c.665-1386A>C
  • NM_001408431.1:c.668-1386A>C
  • NM_001408432.1:c.662-1386A>C
  • NM_001408433.1:c.662-1386A>C
  • NM_001408434.1:c.662-1386A>C
  • NM_001408435.1:c.662-1386A>C
  • NM_001408436.1:c.665-1386A>C
  • NM_001408437.1:c.665-1386A>C
  • NM_001408438.1:c.665-1386A>C
  • NM_001408439.1:c.665-1386A>C
  • NM_001408440.1:c.665-1386A>C
  • NM_001408441.1:c.665-1386A>C
  • NM_001408442.1:c.665-1386A>C
  • NM_001408443.1:c.665-1386A>C
  • NM_001408444.1:c.665-1386A>C
  • NM_001408445.1:c.662-1386A>C
  • NM_001408446.1:c.662-1386A>C
  • NM_001408447.1:c.662-1386A>C
  • NM_001408448.1:c.662-1386A>C
  • NM_001408450.1:c.662-1386A>C
  • NM_001408451.1:c.653-1386A>C
  • NM_001408452.1:c.647-1386A>C
  • NM_001408453.1:c.647-1386A>C
  • NM_001408454.1:c.647-1386A>C
  • NM_001408455.1:c.647-1386A>C
  • NM_001408456.1:c.647-1386A>C
  • NM_001408457.1:c.647-1386A>C
  • NM_001408458.1:c.647-1386A>C
  • NM_001408459.1:c.647-1386A>C
  • NM_001408460.1:c.647-1386A>C
  • NM_001408461.1:c.647-1386A>C
  • NM_001408462.1:c.644-1386A>C
  • NM_001408463.1:c.644-1386A>C
  • NM_001408464.1:c.644-1386A>C
  • NM_001408465.1:c.644-1386A>C
  • NM_001408466.1:c.647-1386A>C
  • NM_001408467.1:c.647-1386A>C
  • NM_001408468.1:c.644-1386A>C
  • NM_001408469.1:c.647-1386A>C
  • NM_001408470.1:c.644-1386A>C
  • NM_001408472.1:c.788-1386A>C
  • NM_001408473.1:c.785-1386A>C
  • NM_001408474.1:c.587-1386A>C
  • NM_001408475.1:c.584-1386A>C
  • NM_001408476.1:c.587-1386A>C
  • NM_001408478.1:c.578-1386A>C
  • NM_001408479.1:c.578-1386A>C
  • NM_001408480.1:c.578-1386A>C
  • NM_001408481.1:c.578-1386A>C
  • NM_001408482.1:c.578-1386A>C
  • NM_001408483.1:c.578-1386A>C
  • NM_001408484.1:c.578-1386A>C
  • NM_001408485.1:c.578-1386A>C
  • NM_001408489.1:c.578-1386A>C
  • NM_001408490.1:c.575-1386A>C
  • NM_001408491.1:c.575-1386A>C
  • NM_001408492.1:c.578-1386A>C
  • NM_001408493.1:c.575-1386A>C
  • NM_001408494.1:c.548-1386A>C
  • NM_001408495.1:c.545-1386A>C
  • NM_001408496.1:c.524-1386A>C
  • NM_001408497.1:c.524-1386A>C
  • NM_001408498.1:c.524-1386A>C
  • NM_001408499.1:c.524-1386A>C
  • NM_001408500.1:c.524-1386A>C
  • NM_001408501.1:c.524-1386A>C
  • NM_001408502.1:c.455-1386A>C
  • NM_001408503.1:c.521-1386A>C
  • NM_001408504.1:c.521-1386A>C
  • NM_001408505.1:c.521-1386A>C
  • NM_001408506.1:c.461-1386A>C
  • NM_001408507.1:c.461-1386A>C
  • NM_001408508.1:c.452-1386A>C
  • NM_001408509.1:c.452-1386A>C
  • NM_001408510.1:c.407-1386A>C
  • NM_001408511.1:c.404-1386A>C
  • NM_001408512.1:c.284-1386A>C
  • NM_001408513.1:c.578-1386A>C
  • NM_001408514.1:c.578-1386A>C
  • NM_007294.4:c.3113A>CMANE SELECT
  • NM_007297.4:c.2972A>C
  • NM_007298.4:c.788-1386A>C
  • NM_007299.4:c.788-1386A>C
  • NM_007300.4:c.3113A>C
  • NP_001394500.1:p.Glu967Ala
  • NP_001394510.1:p.Glu1038Ala
  • NP_001394511.1:p.Glu1038Ala
  • NP_001394512.1:p.Glu1038Ala
  • NP_001394514.1:p.Glu1038Ala
  • NP_001394516.1:p.Glu1037Ala
  • NP_001394519.1:p.Glu1037Ala
  • NP_001394520.1:p.Glu1037Ala
  • NP_001394522.1:p.Glu1038Ala
  • NP_001394523.1:p.Glu1038Ala
  • NP_001394525.1:p.Glu1038Ala
  • NP_001394526.1:p.Glu1038Ala
  • NP_001394527.1:p.Glu1038Ala
  • NP_001394531.1:p.Glu1038Ala
  • NP_001394532.1:p.Glu1038Ala
  • NP_001394534.1:p.Glu1038Ala
  • NP_001394539.1:p.Glu1037Ala
  • NP_001394540.1:p.Glu1037Ala
  • NP_001394541.1:p.Glu1037Ala
  • NP_001394542.1:p.Glu1037Ala
  • NP_001394543.1:p.Glu1037Ala
  • NP_001394544.1:p.Glu1037Ala
  • NP_001394545.1:p.Glu1038Ala
  • NP_001394546.1:p.Glu1038Ala
  • NP_001394547.1:p.Glu1038Ala
  • NP_001394548.1:p.Glu1038Ala
  • NP_001394549.1:p.Glu1038Ala
  • NP_001394550.1:p.Glu1038Ala
  • NP_001394551.1:p.Glu1038Ala
  • NP_001394552.1:p.Glu1038Ala
  • NP_001394553.1:p.Glu1038Ala
  • NP_001394554.1:p.Glu1038Ala
  • NP_001394555.1:p.Glu1038Ala
  • NP_001394556.1:p.Glu1037Ala
  • NP_001394557.1:p.Glu1037Ala
  • NP_001394558.1:p.Glu1037Ala
  • NP_001394559.1:p.Glu1037Ala
  • NP_001394560.1:p.Glu1037Ala
  • NP_001394561.1:p.Glu1037Ala
  • NP_001394562.1:p.Glu1037Ala
  • NP_001394563.1:p.Glu1037Ala
  • NP_001394564.1:p.Glu1037Ala
  • NP_001394565.1:p.Glu1037Ala
  • NP_001394566.1:p.Glu1037Ala
  • NP_001394567.1:p.Glu1037Ala
  • NP_001394568.1:p.Glu1038Ala
  • NP_001394569.1:p.Glu1038Ala
  • NP_001394570.1:p.Glu1038Ala
  • NP_001394571.1:p.Glu1038Ala
  • NP_001394573.1:p.Glu1037Ala
  • NP_001394574.1:p.Glu1037Ala
  • NP_001394575.1:p.Glu1035Ala
  • NP_001394576.1:p.Glu1035Ala
  • NP_001394577.1:p.Glu997Ala
  • NP_001394578.1:p.Glu996Ala
  • NP_001394581.1:p.Glu1038Ala
  • NP_001394582.1:p.Glu1012Ala
  • NP_001394583.1:p.Glu1012Ala
  • NP_001394584.1:p.Glu1012Ala
  • NP_001394585.1:p.Glu1012Ala
  • NP_001394586.1:p.Glu1012Ala
  • NP_001394587.1:p.Glu1012Ala
  • NP_001394588.1:p.Glu1011Ala
  • NP_001394589.1:p.Glu1011Ala
  • NP_001394590.1:p.Glu1011Ala
  • NP_001394591.1:p.Glu1011Ala
  • NP_001394592.1:p.Glu1012Ala
  • NP_001394593.1:p.Glu997Ala
  • NP_001394594.1:p.Glu997Ala
  • NP_001394595.1:p.Glu997Ala
  • NP_001394596.1:p.Glu997Ala
  • NP_001394597.1:p.Glu997Ala
  • NP_001394598.1:p.Glu997Ala
  • NP_001394599.1:p.Glu996Ala
  • NP_001394600.1:p.Glu996Ala
  • NP_001394601.1:p.Glu996Ala
  • NP_001394602.1:p.Glu996Ala
  • NP_001394603.1:p.Glu997Ala
  • NP_001394604.1:p.Glu997Ala
  • NP_001394605.1:p.Glu997Ala
  • NP_001394606.1:p.Glu997Ala
  • NP_001394607.1:p.Glu997Ala
  • NP_001394608.1:p.Glu997Ala
  • NP_001394609.1:p.Glu997Ala
  • NP_001394610.1:p.Glu997Ala
  • NP_001394611.1:p.Glu997Ala
  • NP_001394612.1:p.Glu997Ala
  • NP_001394613.1:p.Glu1038Ala
  • NP_001394614.1:p.Glu996Ala
  • NP_001394615.1:p.Glu996Ala
  • NP_001394616.1:p.Glu996Ala
  • NP_001394617.1:p.Glu996Ala
  • NP_001394618.1:p.Glu996Ala
  • NP_001394619.1:p.Glu996Ala
  • NP_001394620.1:p.Glu996Ala
  • NP_001394621.1:p.Glu991Ala
  • NP_001394623.1:p.Glu991Ala
  • NP_001394624.1:p.Glu991Ala
  • NP_001394625.1:p.Glu991Ala
  • NP_001394626.1:p.Glu991Ala
  • NP_001394627.1:p.Glu991Ala
  • NP_001394653.1:p.Glu991Ala
  • NP_001394654.1:p.Glu991Ala
  • NP_001394655.1:p.Glu991Ala
  • NP_001394656.1:p.Glu991Ala
  • NP_001394657.1:p.Glu991Ala
  • NP_001394658.1:p.Glu991Ala
  • NP_001394659.1:p.Glu991Ala
  • NP_001394660.1:p.Glu991Ala
  • NP_001394661.1:p.Glu991Ala
  • NP_001394662.1:p.Glu991Ala
  • NP_001394663.1:p.Glu991Ala
  • NP_001394664.1:p.Glu991Ala
  • NP_001394665.1:p.Glu991Ala
  • NP_001394666.1:p.Glu991Ala
  • NP_001394667.1:p.Glu991Ala
  • NP_001394668.1:p.Glu991Ala
  • NP_001394669.1:p.Glu990Ala
  • NP_001394670.1:p.Glu990Ala
  • NP_001394671.1:p.Glu990Ala
  • NP_001394672.1:p.Glu990Ala
  • NP_001394673.1:p.Glu990Ala
  • NP_001394674.1:p.Glu990Ala
  • NP_001394675.1:p.Glu990Ala
  • NP_001394676.1:p.Glu990Ala
  • NP_001394677.1:p.Glu990Ala
  • NP_001394678.1:p.Glu990Ala
  • NP_001394679.1:p.Glu991Ala
  • NP_001394680.1:p.Glu991Ala
  • NP_001394681.1:p.Glu991Ala
  • NP_001394767.1:p.Glu990Ala
  • NP_001394768.1:p.Glu990Ala
  • NP_001394770.1:p.Glu990Ala
  • NP_001394771.1:p.Glu990Ala
  • NP_001394772.1:p.Glu990Ala
  • NP_001394773.1:p.Glu990Ala
  • NP_001394774.1:p.Glu990Ala
  • NP_001394775.1:p.Glu990Ala
  • NP_001394776.1:p.Glu990Ala
  • NP_001394777.1:p.Glu990Ala
  • NP_001394778.1:p.Glu990Ala
  • NP_001394779.1:p.Glu991Ala
  • NP_001394780.1:p.Glu991Ala
  • NP_001394781.1:p.Glu991Ala
  • NP_001394782.1:p.Glu967Ala
  • NP_001394783.1:p.Glu1038Ala
  • NP_001394787.1:p.Glu1038Ala
  • NP_001394788.1:p.Glu1038Ala
  • NP_001394789.1:p.Glu1037Ala
  • NP_001394790.1:p.Glu1037Ala
  • NP_001394791.1:p.Glu971Ala
  • NP_001394792.1:p.Glu997Ala
  • NP_001394803.1:p.Glu970Ala
  • NP_001394804.1:p.Glu970Ala
  • NP_001394808.1:p.Glu968Ala
  • NP_001394810.1:p.Glu968Ala
  • NP_001394811.1:p.Glu968Ala
  • NP_001394813.1:p.Glu968Ala
  • NP_001394814.1:p.Glu968Ala
  • NP_001394815.1:p.Glu968Ala
  • NP_001394816.1:p.Glu968Ala
  • NP_001394818.1:p.Glu968Ala
  • NP_001394823.1:p.Glu967Ala
  • NP_001394824.1:p.Glu967Ala
  • NP_001394825.1:p.Glu967Ala
  • NP_001394826.1:p.Glu967Ala
  • NP_001394827.1:p.Glu967Ala
  • NP_001394828.1:p.Glu967Ala
  • NP_001394829.1:p.Glu968Ala
  • NP_001394831.1:p.Glu968Ala
  • NP_001394833.1:p.Glu968Ala
  • NP_001394835.1:p.Glu968Ala
  • NP_001394836.1:p.Glu968Ala
  • NP_001394837.1:p.Glu968Ala
  • NP_001394838.1:p.Glu968Ala
  • NP_001394839.1:p.Glu968Ala
  • NP_001394844.1:p.Glu967Ala
  • NP_001394845.1:p.Glu967Ala
  • NP_001394846.1:p.Glu967Ala
  • NP_001394847.1:p.Glu967Ala
  • NP_001394848.1:p.Glu997Ala
  • NP_001394849.1:p.Glu950Ala
  • NP_001394850.1:p.Glu950Ala
  • NP_001394851.1:p.Glu950Ala
  • NP_001394852.1:p.Glu950Ala
  • NP_001394853.1:p.Glu950Ala
  • NP_001394854.1:p.Glu950Ala
  • NP_001394855.1:p.Glu950Ala
  • NP_001394856.1:p.Glu950Ala
  • NP_001394857.1:p.Glu950Ala
  • NP_001394858.1:p.Glu950Ala
  • NP_001394859.1:p.Glu949Ala
  • NP_001394860.1:p.Glu949Ala
  • NP_001394861.1:p.Glu949Ala
  • NP_001394862.1:p.Glu950Ala
  • NP_001394863.1:p.Glu949Ala
  • NP_001394864.1:p.Glu950Ala
  • NP_001394865.1:p.Glu949Ala
  • NP_001394866.1:p.Glu997Ala
  • NP_001394867.1:p.Glu997Ala
  • NP_001394868.1:p.Glu997Ala
  • NP_001394869.1:p.Glu996Ala
  • NP_001394870.1:p.Glu996Ala
  • NP_001394871.1:p.Glu991Ala
  • NP_001394872.1:p.Glu990Ala
  • NP_001394873.1:p.Glu991Ala
  • NP_001394874.1:p.Glu991Ala
  • NP_001394875.1:p.Glu927Ala
  • NP_001394876.1:p.Glu927Ala
  • NP_001394877.1:p.Glu927Ala
  • NP_001394878.1:p.Glu927Ala
  • NP_001394879.1:p.Glu927Ala
  • NP_001394880.1:p.Glu927Ala
  • NP_001394881.1:p.Glu927Ala
  • NP_001394882.1:p.Glu927Ala
  • NP_001394883.1:p.Glu926Ala
  • NP_001394884.1:p.Glu926Ala
  • NP_001394885.1:p.Glu926Ala
  • NP_001394886.1:p.Glu927Ala
  • NP_001394887.1:p.Glu926Ala
  • NP_001394888.1:p.Glu911Ala
  • NP_001394889.1:p.Glu911Ala
  • NP_001394891.1:p.Glu910Ala
  • NP_001394892.1:p.Glu911Ala
  • NP_001394893.1:p.Glu990Ala
  • NP_001394894.1:p.Glu870Ala
  • NP_001394895.1:p.Glu742Ala
  • NP_001394896.1:p.Glu742Ala
  • NP_009225.1:p.Glu1038Ala
  • NP_009225.1:p.Glu1038Ala
  • NP_009228.2:p.Glu991Ala
  • NP_009231.2:p.Glu1038Ala
  • LRG_292t1:c.3113A>C
  • LRG_292:g.125566A>C
  • LRG_292p1:p.Glu1038Ala
  • NC_000017.10:g.41244435T>G
  • NM_007294.3:c.3113A>C
  • NR_027676.1:n.3249A>C
Protein change:
E1011A
Links:
dbSNP: rs16941
NCBI 1000 Genomes Browser:
rs16941
Molecular consequence:
  • NM_001407968.1:c.788-279A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-279A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1395A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1386A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2900A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3104A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3104A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3035A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3035A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3035A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3035A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3035A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3035A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3032A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3032A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3032A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3032A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3035A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2900A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3110A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2912A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2909A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2900A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2900A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2900A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2900A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2900A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2900A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2903A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2900A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2900A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2900A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2900A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2846A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2846A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2846A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2846A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2849A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2846A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2990A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2987A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2780A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2780A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2780A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2780A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2780A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2780A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2780A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2780A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2777A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2777A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2777A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2780A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2777A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2732A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2732A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2729A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2732A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2969A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2609A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2225A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2225A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3113A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000591426Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Likely benignunknownclinical testing

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591426.2

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

Description

The p.Glu1038Ala variant has not been identified previously. Another variant impacting the same amino acid (c.3113A>G, p.Glu1038Gly) is a common polymorphism with no clinical significance (Abkevich 2004, Pilato 2010, Balraj 2002, Borg 2010, Diez 2003, and others). The p.Glu1038 residue is not conserved in mammals, and in silico predictions provide inconsistent findings for both p.Glu1038Gly and p.Glu1038Ala variants and this information is not very predictive of pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty at this time, although we would lean towards a more benign role for this variant. This variant is classified as Predicted Benign.

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

Last Updated: Jan 19, 2025