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 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno 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
This HGVS expression did not pass validation- 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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000591426 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Likely benign | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591426.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not 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.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jan 19, 2025