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NM_007294.4(BRCA1):c.3213A>G (p.Glu1071=) AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jan 31, 2020
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000432640.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.3213A>G (p.Glu1071=)]

NM_007294.4(BRCA1):c.3213A>G (p.Glu1071=)

Genes:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3213A>G (p.Glu1071=)
HGVS:
  • NC_000017.11:g.43092318T>C
  • NG_005905.2:g.125666A>G
  • NG_087068.1:g.1300T>C
  • NM_001407571.1:c.3000A>G
  • NM_001407581.1:c.3213A>G
  • NM_001407582.1:c.3213A>G
  • NM_001407583.1:c.3213A>G
  • NM_001407585.1:c.3213A>G
  • NM_001407587.1:c.3210A>G
  • NM_001407590.1:c.3210A>G
  • NM_001407591.1:c.3210A>G
  • NM_001407593.1:c.3213A>G
  • NM_001407594.1:c.3213A>G
  • NM_001407596.1:c.3213A>G
  • NM_001407597.1:c.3213A>G
  • NM_001407598.1:c.3213A>G
  • NM_001407602.1:c.3213A>G
  • NM_001407603.1:c.3213A>G
  • NM_001407605.1:c.3213A>G
  • NM_001407610.1:c.3210A>G
  • NM_001407611.1:c.3210A>G
  • NM_001407612.1:c.3210A>G
  • NM_001407613.1:c.3210A>G
  • NM_001407614.1:c.3210A>G
  • NM_001407615.1:c.3210A>G
  • NM_001407616.1:c.3213A>G
  • NM_001407617.1:c.3213A>G
  • NM_001407618.1:c.3213A>G
  • NM_001407619.1:c.3213A>G
  • NM_001407620.1:c.3213A>G
  • NM_001407621.1:c.3213A>G
  • NM_001407622.1:c.3213A>G
  • NM_001407623.1:c.3213A>G
  • NM_001407624.1:c.3213A>G
  • NM_001407625.1:c.3213A>G
  • NM_001407626.1:c.3213A>G
  • NM_001407627.1:c.3210A>G
  • NM_001407628.1:c.3210A>G
  • NM_001407629.1:c.3210A>G
  • NM_001407630.1:c.3210A>G
  • NM_001407631.1:c.3210A>G
  • NM_001407632.1:c.3210A>G
  • NM_001407633.1:c.3210A>G
  • NM_001407634.1:c.3210A>G
  • NM_001407635.1:c.3210A>G
  • NM_001407636.1:c.3210A>G
  • NM_001407637.1:c.3210A>G
  • NM_001407638.1:c.3210A>G
  • NM_001407639.1:c.3213A>G
  • NM_001407640.1:c.3213A>G
  • NM_001407641.1:c.3213A>G
  • NM_001407642.1:c.3213A>G
  • NM_001407644.1:c.3210A>G
  • NM_001407645.1:c.3210A>G
  • NM_001407646.1:c.3204A>G
  • NM_001407647.1:c.3204A>G
  • NM_001407648.1:c.3090A>G
  • NM_001407649.1:c.3087A>G
  • NM_001407652.1:c.3213A>G
  • NM_001407653.1:c.3135A>G
  • NM_001407654.1:c.3135A>G
  • NM_001407655.1:c.3135A>G
  • NM_001407656.1:c.3135A>G
  • NM_001407657.1:c.3135A>G
  • NM_001407658.1:c.3135A>G
  • NM_001407659.1:c.3132A>G
  • NM_001407660.1:c.3132A>G
  • NM_001407661.1:c.3132A>G
  • NM_001407662.1:c.3132A>G
  • NM_001407663.1:c.3135A>G
  • NM_001407664.1:c.3090A>G
  • NM_001407665.1:c.3090A>G
  • NM_001407666.1:c.3090A>G
  • NM_001407667.1:c.3090A>G
  • NM_001407668.1:c.3090A>G
  • NM_001407669.1:c.3090A>G
  • NM_001407670.1:c.3087A>G
  • NM_001407671.1:c.3087A>G
  • NM_001407672.1:c.3087A>G
  • NM_001407673.1:c.3087A>G
  • NM_001407674.1:c.3090A>G
  • NM_001407675.1:c.3090A>G
  • NM_001407676.1:c.3090A>G
  • NM_001407677.1:c.3090A>G
  • NM_001407678.1:c.3090A>G
  • NM_001407679.1:c.3090A>G
  • NM_001407680.1:c.3090A>G
  • NM_001407681.1:c.3090A>G
  • NM_001407682.1:c.3090A>G
  • NM_001407683.1:c.3090A>G
  • NM_001407684.1:c.3213A>G
  • NM_001407685.1:c.3087A>G
  • NM_001407686.1:c.3087A>G
  • NM_001407687.1:c.3087A>G
  • NM_001407688.1:c.3087A>G
  • NM_001407689.1:c.3087A>G
  • NM_001407690.1:c.3087A>G
  • NM_001407691.1:c.3087A>G
  • NM_001407692.1:c.3072A>G
  • NM_001407694.1:c.3072A>G
  • NM_001407695.1:c.3072A>G
  • NM_001407696.1:c.3072A>G
  • NM_001407697.1:c.3072A>G
  • NM_001407698.1:c.3072A>G
  • NM_001407724.1:c.3072A>G
  • NM_001407725.1:c.3072A>G
  • NM_001407726.1:c.3072A>G
  • NM_001407727.1:c.3072A>G
  • NM_001407728.1:c.3072A>G
  • NM_001407729.1:c.3072A>G
  • NM_001407730.1:c.3072A>G
  • NM_001407731.1:c.3072A>G
  • NM_001407732.1:c.3072A>G
  • NM_001407733.1:c.3072A>G
  • NM_001407734.1:c.3072A>G
  • NM_001407735.1:c.3072A>G
  • NM_001407736.1:c.3072A>G
  • NM_001407737.1:c.3072A>G
  • NM_001407738.1:c.3072A>G
  • NM_001407739.1:c.3072A>G
  • NM_001407740.1:c.3069A>G
  • NM_001407741.1:c.3069A>G
  • NM_001407742.1:c.3069A>G
  • NM_001407743.1:c.3069A>G
  • NM_001407744.1:c.3069A>G
  • NM_001407745.1:c.3069A>G
  • NM_001407746.1:c.3069A>G
  • NM_001407747.1:c.3069A>G
  • NM_001407748.1:c.3069A>G
  • NM_001407749.1:c.3069A>G
  • NM_001407750.1:c.3072A>G
  • NM_001407751.1:c.3072A>G
  • NM_001407752.1:c.3072A>G
  • NM_001407838.1:c.3069A>G
  • NM_001407839.1:c.3069A>G
  • NM_001407841.1:c.3069A>G
  • NM_001407842.1:c.3069A>G
  • NM_001407843.1:c.3069A>G
  • NM_001407844.1:c.3069A>G
  • NM_001407845.1:c.3069A>G
  • NM_001407846.1:c.3069A>G
  • NM_001407847.1:c.3069A>G
  • NM_001407848.1:c.3069A>G
  • NM_001407849.1:c.3069A>G
  • NM_001407850.1:c.3072A>G
  • NM_001407851.1:c.3072A>G
  • NM_001407852.1:c.3072A>G
  • NM_001407853.1:c.3000A>G
  • NM_001407854.1:c.3213A>G
  • NM_001407858.1:c.3213A>G
  • NM_001407859.1:c.3213A>G
  • NM_001407860.1:c.3210A>G
  • NM_001407861.1:c.3210A>G
  • NM_001407862.1:c.3012A>G
  • NM_001407863.1:c.3090A>G
  • NM_001407874.1:c.3009A>G
  • NM_001407875.1:c.3009A>G
  • NM_001407879.1:c.3003A>G
  • NM_001407881.1:c.3003A>G
  • NM_001407882.1:c.3003A>G
  • NM_001407884.1:c.3003A>G
  • NM_001407885.1:c.3003A>G
  • NM_001407886.1:c.3003A>G
  • NM_001407887.1:c.3003A>G
  • NM_001407889.1:c.3003A>G
  • NM_001407894.1:c.3000A>G
  • NM_001407895.1:c.3000A>G
  • NM_001407896.1:c.3000A>G
  • NM_001407897.1:c.3000A>G
  • NM_001407898.1:c.3000A>G
  • NM_001407899.1:c.3000A>G
  • NM_001407900.1:c.3003A>G
  • NM_001407902.1:c.3003A>G
  • NM_001407904.1:c.3003A>G
  • NM_001407906.1:c.3003A>G
  • NM_001407907.1:c.3003A>G
  • NM_001407908.1:c.3003A>G
  • NM_001407909.1:c.3003A>G
  • NM_001407910.1:c.3003A>G
  • NM_001407915.1:c.3000A>G
  • NM_001407916.1:c.3000A>G
  • NM_001407917.1:c.3000A>G
  • NM_001407918.1:c.3000A>G
  • NM_001407919.1:c.3090A>G
  • NM_001407920.1:c.2949A>G
  • NM_001407921.1:c.2949A>G
  • NM_001407922.1:c.2949A>G
  • NM_001407923.1:c.2949A>G
  • NM_001407924.1:c.2949A>G
  • NM_001407925.1:c.2949A>G
  • NM_001407926.1:c.2949A>G
  • NM_001407927.1:c.2949A>G
  • NM_001407928.1:c.2949A>G
  • NM_001407929.1:c.2949A>G
  • NM_001407930.1:c.2946A>G
  • NM_001407931.1:c.2946A>G
  • NM_001407932.1:c.2946A>G
  • NM_001407933.1:c.2949A>G
  • NM_001407934.1:c.2946A>G
  • NM_001407935.1:c.2949A>G
  • NM_001407936.1:c.2946A>G
  • NM_001407937.1:c.3090A>G
  • NM_001407938.1:c.3090A>G
  • NM_001407939.1:c.3090A>G
  • NM_001407940.1:c.3087A>G
  • NM_001407941.1:c.3087A>G
  • NM_001407942.1:c.3072A>G
  • NM_001407943.1:c.3069A>G
  • NM_001407944.1:c.3072A>G
  • NM_001407945.1:c.3072A>G
  • NM_001407946.1:c.2880A>G
  • NM_001407947.1:c.2880A>G
  • NM_001407948.1:c.2880A>G
  • NM_001407949.1:c.2880A>G
  • NM_001407950.1:c.2880A>G
  • NM_001407951.1:c.2880A>G
  • NM_001407952.1:c.2880A>G
  • NM_001407953.1:c.2880A>G
  • NM_001407954.1:c.2877A>G
  • NM_001407955.1:c.2877A>G
  • NM_001407956.1:c.2877A>G
  • NM_001407957.1:c.2880A>G
  • NM_001407958.1:c.2877A>G
  • NM_001407959.1:c.2832A>G
  • NM_001407960.1:c.2832A>G
  • NM_001407962.1:c.2829A>G
  • NM_001407963.1:c.2832A>G
  • NM_001407964.1:c.3069A>G
  • NM_001407965.1:c.2709A>G
  • NM_001407966.1:c.2325A>G
  • NM_001407967.1:c.2325A>G
  • NM_001407968.1:c.788-179A>G
  • NM_001407969.1:c.788-179A>G
  • NM_001407970.1:c.788-1286A>G
  • NM_001407971.1:c.788-1286A>G
  • NM_001407972.1:c.785-1286A>G
  • NM_001407973.1:c.788-1286A>G
  • NM_001407974.1:c.788-1286A>G
  • NM_001407975.1:c.788-1286A>G
  • NM_001407976.1:c.788-1286A>G
  • NM_001407977.1:c.788-1286A>G
  • NM_001407978.1:c.788-1286A>G
  • NM_001407979.1:c.788-1286A>G
  • NM_001407980.1:c.788-1286A>G
  • NM_001407981.1:c.788-1286A>G
  • NM_001407982.1:c.788-1286A>G
  • NM_001407983.1:c.788-1286A>G
  • NM_001407984.1:c.785-1286A>G
  • NM_001407985.1:c.785-1286A>G
  • NM_001407986.1:c.785-1286A>G
  • NM_001407990.1:c.788-1286A>G
  • NM_001407991.1:c.785-1286A>G
  • NM_001407992.1:c.785-1286A>G
  • NM_001407993.1:c.788-1286A>G
  • NM_001408392.1:c.785-1286A>G
  • NM_001408396.1:c.785-1286A>G
  • NM_001408397.1:c.785-1286A>G
  • NM_001408398.1:c.785-1286A>G
  • NM_001408399.1:c.785-1286A>G
  • NM_001408400.1:c.785-1286A>G
  • NM_001408401.1:c.785-1286A>G
  • NM_001408402.1:c.785-1286A>G
  • NM_001408403.1:c.788-1286A>G
  • NM_001408404.1:c.788-1286A>G
  • NM_001408406.1:c.791-1295A>G
  • NM_001408407.1:c.785-1286A>G
  • NM_001408408.1:c.779-1286A>G
  • NM_001408409.1:c.710-1286A>G
  • NM_001408410.1:c.647-1286A>G
  • NM_001408411.1:c.710-1286A>G
  • NM_001408412.1:c.710-1286A>G
  • NM_001408413.1:c.707-1286A>G
  • NM_001408414.1:c.710-1286A>G
  • NM_001408415.1:c.710-1286A>G
  • NM_001408416.1:c.707-1286A>G
  • NM_001408418.1:c.671-1286A>G
  • NM_001408419.1:c.671-1286A>G
  • NM_001408420.1:c.671-1286A>G
  • NM_001408421.1:c.668-1286A>G
  • NM_001408422.1:c.671-1286A>G
  • NM_001408423.1:c.671-1286A>G
  • NM_001408424.1:c.668-1286A>G
  • NM_001408425.1:c.665-1286A>G
  • NM_001408426.1:c.665-1286A>G
  • NM_001408427.1:c.665-1286A>G
  • NM_001408428.1:c.665-1286A>G
  • NM_001408429.1:c.665-1286A>G
  • NM_001408430.1:c.665-1286A>G
  • NM_001408431.1:c.668-1286A>G
  • NM_001408432.1:c.662-1286A>G
  • NM_001408433.1:c.662-1286A>G
  • NM_001408434.1:c.662-1286A>G
  • NM_001408435.1:c.662-1286A>G
  • NM_001408436.1:c.665-1286A>G
  • NM_001408437.1:c.665-1286A>G
  • NM_001408438.1:c.665-1286A>G
  • NM_001408439.1:c.665-1286A>G
  • NM_001408440.1:c.665-1286A>G
  • NM_001408441.1:c.665-1286A>G
  • NM_001408442.1:c.665-1286A>G
  • NM_001408443.1:c.665-1286A>G
  • NM_001408444.1:c.665-1286A>G
  • NM_001408445.1:c.662-1286A>G
  • NM_001408446.1:c.662-1286A>G
  • NM_001408447.1:c.662-1286A>G
  • NM_001408448.1:c.662-1286A>G
  • NM_001408450.1:c.662-1286A>G
  • NM_001408451.1:c.653-1286A>G
  • NM_001408452.1:c.647-1286A>G
  • NM_001408453.1:c.647-1286A>G
  • NM_001408454.1:c.647-1286A>G
  • NM_001408455.1:c.647-1286A>G
  • NM_001408456.1:c.647-1286A>G
  • NM_001408457.1:c.647-1286A>G
  • NM_001408458.1:c.647-1286A>G
  • NM_001408459.1:c.647-1286A>G
  • NM_001408460.1:c.647-1286A>G
  • NM_001408461.1:c.647-1286A>G
  • NM_001408462.1:c.644-1286A>G
  • NM_001408463.1:c.644-1286A>G
  • NM_001408464.1:c.644-1286A>G
  • NM_001408465.1:c.644-1286A>G
  • NM_001408466.1:c.647-1286A>G
  • NM_001408467.1:c.647-1286A>G
  • NM_001408468.1:c.644-1286A>G
  • NM_001408469.1:c.647-1286A>G
  • NM_001408470.1:c.644-1286A>G
  • NM_001408472.1:c.788-1286A>G
  • NM_001408473.1:c.785-1286A>G
  • NM_001408474.1:c.587-1286A>G
  • NM_001408475.1:c.584-1286A>G
  • NM_001408476.1:c.587-1286A>G
  • NM_001408478.1:c.578-1286A>G
  • NM_001408479.1:c.578-1286A>G
  • NM_001408480.1:c.578-1286A>G
  • NM_001408481.1:c.578-1286A>G
  • NM_001408482.1:c.578-1286A>G
  • NM_001408483.1:c.578-1286A>G
  • NM_001408484.1:c.578-1286A>G
  • NM_001408485.1:c.578-1286A>G
  • NM_001408489.1:c.578-1286A>G
  • NM_001408490.1:c.575-1286A>G
  • NM_001408491.1:c.575-1286A>G
  • NM_001408492.1:c.578-1286A>G
  • NM_001408493.1:c.575-1286A>G
  • NM_001408494.1:c.548-1286A>G
  • NM_001408495.1:c.545-1286A>G
  • NM_001408496.1:c.524-1286A>G
  • NM_001408497.1:c.524-1286A>G
  • NM_001408498.1:c.524-1286A>G
  • NM_001408499.1:c.524-1286A>G
  • NM_001408500.1:c.524-1286A>G
  • NM_001408501.1:c.524-1286A>G
  • NM_001408502.1:c.455-1286A>G
  • NM_001408503.1:c.521-1286A>G
  • NM_001408504.1:c.521-1286A>G
  • NM_001408505.1:c.521-1286A>G
  • NM_001408506.1:c.461-1286A>G
  • NM_001408507.1:c.461-1286A>G
  • NM_001408508.1:c.452-1286A>G
  • NM_001408509.1:c.452-1286A>G
  • NM_001408510.1:c.407-1286A>G
  • NM_001408511.1:c.404-1286A>G
  • NM_001408512.1:c.284-1286A>G
  • NM_001408513.1:c.578-1286A>G
  • NM_001408514.1:c.578-1286A>G
  • NM_007294.4:c.3213A>GMANE SELECT
  • NM_007297.4:c.3072A>G
  • NM_007298.4:c.788-1286A>G
  • NM_007299.4:c.788-1286A>G
  • NM_007300.4:c.3213A>G
  • NP_001394500.1:p.Glu1000=
  • NP_001394510.1:p.Glu1071=
  • NP_001394511.1:p.Glu1071=
  • NP_001394512.1:p.Glu1071=
  • NP_001394514.1:p.Glu1071=
  • NP_001394516.1:p.Glu1070=
  • NP_001394519.1:p.Glu1070=
  • NP_001394520.1:p.Glu1070=
  • NP_001394522.1:p.Glu1071=
  • NP_001394523.1:p.Glu1071=
  • NP_001394525.1:p.Glu1071=
  • NP_001394526.1:p.Glu1071=
  • NP_001394527.1:p.Glu1071=
  • NP_001394531.1:p.Glu1071=
  • NP_001394532.1:p.Glu1071=
  • NP_001394534.1:p.Glu1071=
  • NP_001394539.1:p.Glu1070=
  • NP_001394540.1:p.Glu1070=
  • NP_001394541.1:p.Glu1070=
  • NP_001394542.1:p.Glu1070=
  • NP_001394543.1:p.Glu1070=
  • NP_001394544.1:p.Glu1070=
  • NP_001394545.1:p.Glu1071=
  • NP_001394546.1:p.Glu1071=
  • NP_001394547.1:p.Glu1071=
  • NP_001394548.1:p.Glu1071=
  • NP_001394549.1:p.Glu1071=
  • NP_001394550.1:p.Glu1071=
  • NP_001394551.1:p.Glu1071=
  • NP_001394552.1:p.Glu1071=
  • NP_001394553.1:p.Glu1071=
  • NP_001394554.1:p.Glu1071=
  • NP_001394555.1:p.Glu1071=
  • NP_001394556.1:p.Glu1070=
  • NP_001394557.1:p.Glu1070=
  • NP_001394558.1:p.Glu1070=
  • NP_001394559.1:p.Glu1070=
  • NP_001394560.1:p.Glu1070=
  • NP_001394561.1:p.Glu1070=
  • NP_001394562.1:p.Glu1070=
  • NP_001394563.1:p.Glu1070=
  • NP_001394564.1:p.Glu1070=
  • NP_001394565.1:p.Glu1070=
  • NP_001394566.1:p.Glu1070=
  • NP_001394567.1:p.Glu1070=
  • NP_001394568.1:p.Glu1071=
  • NP_001394569.1:p.Glu1071=
  • NP_001394570.1:p.Glu1071=
  • NP_001394571.1:p.Glu1071=
  • NP_001394573.1:p.Glu1070=
  • NP_001394574.1:p.Glu1070=
  • NP_001394575.1:p.Glu1068=
  • NP_001394576.1:p.Glu1068=
  • NP_001394577.1:p.Glu1030=
  • NP_001394578.1:p.Glu1029=
  • NP_001394581.1:p.Glu1071=
  • NP_001394582.1:p.Glu1045=
  • NP_001394583.1:p.Glu1045=
  • NP_001394584.1:p.Glu1045=
  • NP_001394585.1:p.Glu1045=
  • NP_001394586.1:p.Glu1045=
  • NP_001394587.1:p.Glu1045=
  • NP_001394588.1:p.Glu1044=
  • NP_001394589.1:p.Glu1044=
  • NP_001394590.1:p.Glu1044=
  • NP_001394591.1:p.Glu1044=
  • NP_001394592.1:p.Glu1045=
  • NP_001394593.1:p.Glu1030=
  • NP_001394594.1:p.Glu1030=
  • NP_001394595.1:p.Glu1030=
  • NP_001394596.1:p.Glu1030=
  • NP_001394597.1:p.Glu1030=
  • NP_001394598.1:p.Glu1030=
  • NP_001394599.1:p.Glu1029=
  • NP_001394600.1:p.Glu1029=
  • NP_001394601.1:p.Glu1029=
  • NP_001394602.1:p.Glu1029=
  • NP_001394603.1:p.Glu1030=
  • NP_001394604.1:p.Glu1030=
  • NP_001394605.1:p.Glu1030=
  • NP_001394606.1:p.Glu1030=
  • NP_001394607.1:p.Glu1030=
  • NP_001394608.1:p.Glu1030=
  • NP_001394609.1:p.Glu1030=
  • NP_001394610.1:p.Glu1030=
  • NP_001394611.1:p.Glu1030=
  • NP_001394612.1:p.Glu1030=
  • NP_001394613.1:p.Glu1071=
  • NP_001394614.1:p.Glu1029=
  • NP_001394615.1:p.Glu1029=
  • NP_001394616.1:p.Glu1029=
  • NP_001394617.1:p.Glu1029=
  • NP_001394618.1:p.Glu1029=
  • NP_001394619.1:p.Glu1029=
  • NP_001394620.1:p.Glu1029=
  • NP_001394621.1:p.Glu1024=
  • NP_001394623.1:p.Glu1024=
  • NP_001394624.1:p.Glu1024=
  • NP_001394625.1:p.Glu1024=
  • NP_001394626.1:p.Glu1024=
  • NP_001394627.1:p.Glu1024=
  • NP_001394653.1:p.Glu1024=
  • NP_001394654.1:p.Glu1024=
  • NP_001394655.1:p.Glu1024=
  • NP_001394656.1:p.Glu1024=
  • NP_001394657.1:p.Glu1024=
  • NP_001394658.1:p.Glu1024=
  • NP_001394659.1:p.Glu1024=
  • NP_001394660.1:p.Glu1024=
  • NP_001394661.1:p.Glu1024=
  • NP_001394662.1:p.Glu1024=
  • NP_001394663.1:p.Glu1024=
  • NP_001394664.1:p.Glu1024=
  • NP_001394665.1:p.Glu1024=
  • NP_001394666.1:p.Glu1024=
  • NP_001394667.1:p.Glu1024=
  • NP_001394668.1:p.Glu1024=
  • NP_001394669.1:p.Glu1023=
  • NP_001394670.1:p.Glu1023=
  • NP_001394671.1:p.Glu1023=
  • NP_001394672.1:p.Glu1023=
  • NP_001394673.1:p.Glu1023=
  • NP_001394674.1:p.Glu1023=
  • NP_001394675.1:p.Glu1023=
  • NP_001394676.1:p.Glu1023=
  • NP_001394677.1:p.Glu1023=
  • NP_001394678.1:p.Glu1023=
  • NP_001394679.1:p.Glu1024=
  • NP_001394680.1:p.Glu1024=
  • NP_001394681.1:p.Glu1024=
  • NP_001394767.1:p.Glu1023=
  • NP_001394768.1:p.Glu1023=
  • NP_001394770.1:p.Glu1023=
  • NP_001394771.1:p.Glu1023=
  • NP_001394772.1:p.Glu1023=
  • NP_001394773.1:p.Glu1023=
  • NP_001394774.1:p.Glu1023=
  • NP_001394775.1:p.Glu1023=
  • NP_001394776.1:p.Glu1023=
  • NP_001394777.1:p.Glu1023=
  • NP_001394778.1:p.Glu1023=
  • NP_001394779.1:p.Glu1024=
  • NP_001394780.1:p.Glu1024=
  • NP_001394781.1:p.Glu1024=
  • NP_001394782.1:p.Glu1000=
  • NP_001394783.1:p.Glu1071=
  • NP_001394787.1:p.Glu1071=
  • NP_001394788.1:p.Glu1071=
  • NP_001394789.1:p.Glu1070=
  • NP_001394790.1:p.Glu1070=
  • NP_001394791.1:p.Glu1004=
  • NP_001394792.1:p.Glu1030=
  • NP_001394803.1:p.Glu1003=
  • NP_001394804.1:p.Glu1003=
  • NP_001394808.1:p.Glu1001=
  • NP_001394810.1:p.Glu1001=
  • NP_001394811.1:p.Glu1001=
  • NP_001394813.1:p.Glu1001=
  • NP_001394814.1:p.Glu1001=
  • NP_001394815.1:p.Glu1001=
  • NP_001394816.1:p.Glu1001=
  • NP_001394818.1:p.Glu1001=
  • NP_001394823.1:p.Glu1000=
  • NP_001394824.1:p.Glu1000=
  • NP_001394825.1:p.Glu1000=
  • NP_001394826.1:p.Glu1000=
  • NP_001394827.1:p.Glu1000=
  • NP_001394828.1:p.Glu1000=
  • NP_001394829.1:p.Glu1001=
  • NP_001394831.1:p.Glu1001=
  • NP_001394833.1:p.Glu1001=
  • NP_001394835.1:p.Glu1001=
  • NP_001394836.1:p.Glu1001=
  • NP_001394837.1:p.Glu1001=
  • NP_001394838.1:p.Glu1001=
  • NP_001394839.1:p.Glu1001=
  • NP_001394844.1:p.Glu1000=
  • NP_001394845.1:p.Glu1000=
  • NP_001394846.1:p.Glu1000=
  • NP_001394847.1:p.Glu1000=
  • NP_001394848.1:p.Glu1030=
  • NP_001394849.1:p.Glu983=
  • NP_001394850.1:p.Glu983=
  • NP_001394851.1:p.Glu983=
  • NP_001394852.1:p.Glu983=
  • NP_001394853.1:p.Glu983=
  • NP_001394854.1:p.Glu983=
  • NP_001394855.1:p.Glu983=
  • NP_001394856.1:p.Glu983=
  • NP_001394857.1:p.Glu983=
  • NP_001394858.1:p.Glu983=
  • NP_001394859.1:p.Glu982=
  • NP_001394860.1:p.Glu982=
  • NP_001394861.1:p.Glu982=
  • NP_001394862.1:p.Glu983=
  • NP_001394863.1:p.Glu982=
  • NP_001394864.1:p.Glu983=
  • NP_001394865.1:p.Glu982=
  • NP_001394866.1:p.Glu1030=
  • NP_001394867.1:p.Glu1030=
  • NP_001394868.1:p.Glu1030=
  • NP_001394869.1:p.Glu1029=
  • NP_001394870.1:p.Glu1029=
  • NP_001394871.1:p.Glu1024=
  • NP_001394872.1:p.Glu1023=
  • NP_001394873.1:p.Glu1024=
  • NP_001394874.1:p.Glu1024=
  • NP_001394875.1:p.Glu960=
  • NP_001394876.1:p.Glu960=
  • NP_001394877.1:p.Glu960=
  • NP_001394878.1:p.Glu960=
  • NP_001394879.1:p.Glu960=
  • NP_001394880.1:p.Glu960=
  • NP_001394881.1:p.Glu960=
  • NP_001394882.1:p.Glu960=
  • NP_001394883.1:p.Glu959=
  • NP_001394884.1:p.Glu959=
  • NP_001394885.1:p.Glu959=
  • NP_001394886.1:p.Glu960=
  • NP_001394887.1:p.Glu959=
  • NP_001394888.1:p.Glu944=
  • NP_001394889.1:p.Glu944=
  • NP_001394891.1:p.Glu943=
  • NP_001394892.1:p.Glu944=
  • NP_001394893.1:p.Glu1023=
  • NP_001394894.1:p.Glu903=
  • NP_001394895.1:p.Glu775=
  • NP_001394896.1:p.Glu775=
  • NP_009225.1:p.Glu1071=
  • NP_009225.1:p.Glu1071=
  • NP_009228.2:p.Glu1024=
  • NP_009231.2:p.Glu1071=
  • LRG_292t1:c.3213A>G
  • LRG_292:g.125666A>G
  • LRG_292p1:p.Glu1071=
  • NC_000017.10:g.41244335T>C
  • NM_007294.3:c.3213A>G
  • NR_027676.2:n.3390A>G
Links:
dbSNP: rs528254652
NCBI 1000 Genomes Browser:
rs528254652
Molecular consequence:
  • NM_001407968.1:c.788-179A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-179A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1295A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1286A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3000A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407581.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407582.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407583.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407585.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407587.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407590.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407591.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407593.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407594.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407596.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407597.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407598.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407602.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407603.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407605.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407610.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407611.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407612.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407613.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407614.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407615.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407616.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407617.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407618.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407619.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407620.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407621.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407622.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407623.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407624.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407625.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407626.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407627.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407628.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407629.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407630.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407631.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407632.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407633.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407634.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407635.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407636.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407637.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407638.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407639.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407640.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407641.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407642.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407644.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407645.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407646.1:c.3204A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407647.1:c.3204A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407648.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407649.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407652.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407653.1:c.3135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407654.1:c.3135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407655.1:c.3135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407656.1:c.3135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407657.1:c.3135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407658.1:c.3135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407659.1:c.3132A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407660.1:c.3132A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407661.1:c.3132A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407662.1:c.3132A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407663.1:c.3135A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407664.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407665.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407666.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407667.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407668.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407669.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407670.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407671.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407672.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407673.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407674.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407675.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407676.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407677.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407678.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407679.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407680.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407681.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407682.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407683.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407684.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407685.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407686.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407687.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407688.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407689.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407690.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407691.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407692.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407694.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407695.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407696.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407697.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407698.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407724.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407725.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407726.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407727.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407728.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407729.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407730.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407731.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407732.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407733.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407734.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407735.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407736.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407737.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407738.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407739.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407740.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407741.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407742.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407743.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407744.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407745.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407746.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407747.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407748.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407749.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407750.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407751.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407752.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407838.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407839.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407841.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407842.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407843.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407844.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407845.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407846.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407847.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407848.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407849.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407850.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407851.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407852.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407853.1:c.3000A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407854.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407858.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407859.1:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407860.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407861.1:c.3210A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407862.1:c.3012A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407863.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407874.1:c.3009A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407875.1:c.3009A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407879.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407881.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407882.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407884.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407885.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407886.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407887.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407889.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407894.1:c.3000A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407895.1:c.3000A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407896.1:c.3000A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407897.1:c.3000A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407898.1:c.3000A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407899.1:c.3000A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407900.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407902.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407904.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407906.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407907.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407908.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407909.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407910.1:c.3003A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407915.1:c.3000A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407916.1:c.3000A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407917.1:c.3000A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407918.1:c.3000A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407919.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407920.1:c.2949A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407921.1:c.2949A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407922.1:c.2949A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407923.1:c.2949A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407924.1:c.2949A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407925.1:c.2949A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407926.1:c.2949A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407927.1:c.2949A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407928.1:c.2949A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407929.1:c.2949A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407930.1:c.2946A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407931.1:c.2946A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407932.1:c.2946A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407933.1:c.2949A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407934.1:c.2946A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407935.1:c.2949A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407936.1:c.2946A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407937.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407938.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407939.1:c.3090A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407940.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407941.1:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407942.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407943.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407944.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407945.1:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407946.1:c.2880A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407947.1:c.2880A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407948.1:c.2880A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407949.1:c.2880A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407950.1:c.2880A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407951.1:c.2880A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407952.1:c.2880A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407953.1:c.2880A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407954.1:c.2877A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407955.1:c.2877A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407956.1:c.2877A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407957.1:c.2880A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407958.1:c.2877A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407959.1:c.2832A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407960.1:c.2832A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407962.1:c.2829A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407963.1:c.2832A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407964.1:c.3069A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407965.1:c.2709A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407966.1:c.2325A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001407967.1:c.2325A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007294.4:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007297.4:c.3072A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007300.4:c.3213A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000522055GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Apr 26, 2017) 		germlineclinical testing

Citation Link,

SCV001360616Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely benign
(Jan 31, 2020) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]
PMID:
16267036

Details of each submission

From GeneDx, SCV000522055.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001360616.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024