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NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Sep 1, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000112235.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys)]

NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys)

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.4054G>A (p.Glu1352Lys)
HGVS:
  • NC_000017.11:g.43091477C>T
  • NG_005905.2:g.126507G>A
  • NG_087068.1:g.459C>T
  • NM_001407571.1:c.3841G>A
  • NM_001407581.1:c.4054G>A
  • NM_001407582.1:c.4054G>A
  • NM_001407583.1:c.4054G>A
  • NM_001407585.1:c.4054G>A
  • NM_001407587.1:c.4051G>A
  • NM_001407590.1:c.4051G>A
  • NM_001407591.1:c.4051G>A
  • NM_001407593.1:c.4054G>A
  • NM_001407594.1:c.4054G>A
  • NM_001407596.1:c.4054G>A
  • NM_001407597.1:c.4054G>A
  • NM_001407598.1:c.4054G>A
  • NM_001407602.1:c.4054G>A
  • NM_001407603.1:c.4054G>A
  • NM_001407605.1:c.4054G>A
  • NM_001407610.1:c.4051G>A
  • NM_001407611.1:c.4051G>A
  • NM_001407612.1:c.4051G>A
  • NM_001407613.1:c.4051G>A
  • NM_001407614.1:c.4051G>A
  • NM_001407615.1:c.4051G>A
  • NM_001407616.1:c.4054G>A
  • NM_001407617.1:c.4054G>A
  • NM_001407618.1:c.4054G>A
  • NM_001407619.1:c.4054G>A
  • NM_001407620.1:c.4054G>A
  • NM_001407621.1:c.4054G>A
  • NM_001407622.1:c.4054G>A
  • NM_001407623.1:c.4054G>A
  • NM_001407624.1:c.4054G>A
  • NM_001407625.1:c.4054G>A
  • NM_001407626.1:c.4054G>A
  • NM_001407627.1:c.4051G>A
  • NM_001407628.1:c.4051G>A
  • NM_001407629.1:c.4051G>A
  • NM_001407630.1:c.4051G>A
  • NM_001407631.1:c.4051G>A
  • NM_001407632.1:c.4051G>A
  • NM_001407633.1:c.4051G>A
  • NM_001407634.1:c.4051G>A
  • NM_001407635.1:c.4051G>A
  • NM_001407636.1:c.4051G>A
  • NM_001407637.1:c.4051G>A
  • NM_001407638.1:c.4051G>A
  • NM_001407639.1:c.4054G>A
  • NM_001407640.1:c.4054G>A
  • NM_001407641.1:c.4054G>A
  • NM_001407642.1:c.4054G>A
  • NM_001407644.1:c.4051G>A
  • NM_001407645.1:c.4051G>A
  • NM_001407646.1:c.4045G>A
  • NM_001407647.1:c.4045G>A
  • NM_001407648.1:c.3931G>A
  • NM_001407649.1:c.3928G>A
  • NM_001407652.1:c.4054G>A
  • NM_001407653.1:c.3976G>A
  • NM_001407654.1:c.3976G>A
  • NM_001407655.1:c.3976G>A
  • NM_001407656.1:c.3976G>A
  • NM_001407657.1:c.3976G>A
  • NM_001407658.1:c.3976G>A
  • NM_001407659.1:c.3973G>A
  • NM_001407660.1:c.3973G>A
  • NM_001407661.1:c.3973G>A
  • NM_001407662.1:c.3973G>A
  • NM_001407663.1:c.3976G>A
  • NM_001407664.1:c.3931G>A
  • NM_001407665.1:c.3931G>A
  • NM_001407666.1:c.3931G>A
  • NM_001407667.1:c.3931G>A
  • NM_001407668.1:c.3931G>A
  • NM_001407669.1:c.3931G>A
  • NM_001407670.1:c.3928G>A
  • NM_001407671.1:c.3928G>A
  • NM_001407672.1:c.3928G>A
  • NM_001407673.1:c.3928G>A
  • NM_001407674.1:c.3931G>A
  • NM_001407675.1:c.3931G>A
  • NM_001407676.1:c.3931G>A
  • NM_001407677.1:c.3931G>A
  • NM_001407678.1:c.3931G>A
  • NM_001407679.1:c.3931G>A
  • NM_001407680.1:c.3931G>A
  • NM_001407681.1:c.3931G>A
  • NM_001407682.1:c.3931G>A
  • NM_001407683.1:c.3931G>A
  • NM_001407684.1:c.4054G>A
  • NM_001407685.1:c.3928G>A
  • NM_001407686.1:c.3928G>A
  • NM_001407687.1:c.3928G>A
  • NM_001407688.1:c.3928G>A
  • NM_001407689.1:c.3928G>A
  • NM_001407690.1:c.3928G>A
  • NM_001407691.1:c.3928G>A
  • NM_001407692.1:c.3913G>A
  • NM_001407694.1:c.3913G>A
  • NM_001407695.1:c.3913G>A
  • NM_001407696.1:c.3913G>A
  • NM_001407697.1:c.3913G>A
  • NM_001407698.1:c.3913G>A
  • NM_001407724.1:c.3913G>A
  • NM_001407725.1:c.3913G>A
  • NM_001407726.1:c.3913G>A
  • NM_001407727.1:c.3913G>A
  • NM_001407728.1:c.3913G>A
  • NM_001407729.1:c.3913G>A
  • NM_001407730.1:c.3913G>A
  • NM_001407731.1:c.3913G>A
  • NM_001407732.1:c.3913G>A
  • NM_001407733.1:c.3913G>A
  • NM_001407734.1:c.3913G>A
  • NM_001407735.1:c.3913G>A
  • NM_001407736.1:c.3913G>A
  • NM_001407737.1:c.3913G>A
  • NM_001407738.1:c.3913G>A
  • NM_001407739.1:c.3913G>A
  • NM_001407740.1:c.3910G>A
  • NM_001407741.1:c.3910G>A
  • NM_001407742.1:c.3910G>A
  • NM_001407743.1:c.3910G>A
  • NM_001407744.1:c.3910G>A
  • NM_001407745.1:c.3910G>A
  • NM_001407746.1:c.3910G>A
  • NM_001407747.1:c.3910G>A
  • NM_001407748.1:c.3910G>A
  • NM_001407749.1:c.3910G>A
  • NM_001407750.1:c.3913G>A
  • NM_001407751.1:c.3913G>A
  • NM_001407752.1:c.3913G>A
  • NM_001407838.1:c.3910G>A
  • NM_001407839.1:c.3910G>A
  • NM_001407841.1:c.3910G>A
  • NM_001407842.1:c.3910G>A
  • NM_001407843.1:c.3910G>A
  • NM_001407844.1:c.3910G>A
  • NM_001407845.1:c.3910G>A
  • NM_001407846.1:c.3910G>A
  • NM_001407847.1:c.3910G>A
  • NM_001407848.1:c.3910G>A
  • NM_001407849.1:c.3910G>A
  • NM_001407850.1:c.3913G>A
  • NM_001407851.1:c.3913G>A
  • NM_001407852.1:c.3913G>A
  • NM_001407853.1:c.3841G>A
  • NM_001407854.1:c.4054G>A
  • NM_001407858.1:c.4054G>A
  • NM_001407859.1:c.4054G>A
  • NM_001407860.1:c.4051G>A
  • NM_001407861.1:c.4051G>A
  • NM_001407862.1:c.3853G>A
  • NM_001407863.1:c.3931G>A
  • NM_001407874.1:c.3850G>A
  • NM_001407875.1:c.3850G>A
  • NM_001407879.1:c.3844G>A
  • NM_001407881.1:c.3844G>A
  • NM_001407882.1:c.3844G>A
  • NM_001407884.1:c.3844G>A
  • NM_001407885.1:c.3844G>A
  • NM_001407886.1:c.3844G>A
  • NM_001407887.1:c.3844G>A
  • NM_001407889.1:c.3844G>A
  • NM_001407894.1:c.3841G>A
  • NM_001407895.1:c.3841G>A
  • NM_001407896.1:c.3841G>A
  • NM_001407897.1:c.3841G>A
  • NM_001407898.1:c.3841G>A
  • NM_001407899.1:c.3841G>A
  • NM_001407900.1:c.3844G>A
  • NM_001407902.1:c.3844G>A
  • NM_001407904.1:c.3844G>A
  • NM_001407906.1:c.3844G>A
  • NM_001407907.1:c.3844G>A
  • NM_001407908.1:c.3844G>A
  • NM_001407909.1:c.3844G>A
  • NM_001407910.1:c.3844G>A
  • NM_001407915.1:c.3841G>A
  • NM_001407916.1:c.3841G>A
  • NM_001407917.1:c.3841G>A
  • NM_001407918.1:c.3841G>A
  • NM_001407919.1:c.3931G>A
  • NM_001407920.1:c.3790G>A
  • NM_001407921.1:c.3790G>A
  • NM_001407922.1:c.3790G>A
  • NM_001407923.1:c.3790G>A
  • NM_001407924.1:c.3790G>A
  • NM_001407925.1:c.3790G>A
  • NM_001407926.1:c.3790G>A
  • NM_001407927.1:c.3790G>A
  • NM_001407928.1:c.3790G>A
  • NM_001407929.1:c.3790G>A
  • NM_001407930.1:c.3787G>A
  • NM_001407931.1:c.3787G>A
  • NM_001407932.1:c.3787G>A
  • NM_001407933.1:c.3790G>A
  • NM_001407934.1:c.3787G>A
  • NM_001407935.1:c.3790G>A
  • NM_001407936.1:c.3787G>A
  • NM_001407937.1:c.3931G>A
  • NM_001407938.1:c.3931G>A
  • NM_001407939.1:c.3931G>A
  • NM_001407940.1:c.3928G>A
  • NM_001407941.1:c.3928G>A
  • NM_001407942.1:c.3913G>A
  • NM_001407943.1:c.3910G>A
  • NM_001407944.1:c.3913G>A
  • NM_001407945.1:c.3913G>A
  • NM_001407946.1:c.3721G>A
  • NM_001407947.1:c.3721G>A
  • NM_001407948.1:c.3721G>A
  • NM_001407949.1:c.3721G>A
  • NM_001407950.1:c.3721G>A
  • NM_001407951.1:c.3721G>A
  • NM_001407952.1:c.3721G>A
  • NM_001407953.1:c.3721G>A
  • NM_001407954.1:c.3718G>A
  • NM_001407955.1:c.3718G>A
  • NM_001407956.1:c.3718G>A
  • NM_001407957.1:c.3721G>A
  • NM_001407958.1:c.3718G>A
  • NM_001407959.1:c.3673G>A
  • NM_001407960.1:c.3673G>A
  • NM_001407962.1:c.3670G>A
  • NM_001407963.1:c.3673G>A
  • NM_001407964.1:c.3910G>A
  • NM_001407965.1:c.3550G>A
  • NM_001407966.1:c.3166G>A
  • NM_001407967.1:c.3166G>A
  • NM_001407968.1:c.1450G>A
  • NM_001407969.1:c.1450G>A
  • NM_001407970.1:c.788-445G>A
  • NM_001407971.1:c.788-445G>A
  • NM_001407972.1:c.785-445G>A
  • NM_001407973.1:c.788-445G>A
  • NM_001407974.1:c.788-445G>A
  • NM_001407975.1:c.788-445G>A
  • NM_001407976.1:c.788-445G>A
  • NM_001407977.1:c.788-445G>A
  • NM_001407978.1:c.788-445G>A
  • NM_001407979.1:c.788-445G>A
  • NM_001407980.1:c.788-445G>A
  • NM_001407981.1:c.788-445G>A
  • NM_001407982.1:c.788-445G>A
  • NM_001407983.1:c.788-445G>A
  • NM_001407984.1:c.785-445G>A
  • NM_001407985.1:c.785-445G>A
  • NM_001407986.1:c.785-445G>A
  • NM_001407990.1:c.788-445G>A
  • NM_001407991.1:c.785-445G>A
  • NM_001407992.1:c.785-445G>A
  • NM_001407993.1:c.788-445G>A
  • NM_001408392.1:c.785-445G>A
  • NM_001408396.1:c.785-445G>A
  • NM_001408397.1:c.785-445G>A
  • NM_001408398.1:c.785-445G>A
  • NM_001408399.1:c.785-445G>A
  • NM_001408400.1:c.785-445G>A
  • NM_001408401.1:c.785-445G>A
  • NM_001408402.1:c.785-445G>A
  • NM_001408403.1:c.788-445G>A
  • NM_001408404.1:c.788-445G>A
  • NM_001408406.1:c.791-454G>A
  • NM_001408407.1:c.785-445G>A
  • NM_001408408.1:c.779-445G>A
  • NM_001408409.1:c.710-445G>A
  • NM_001408410.1:c.647-445G>A
  • NM_001408411.1:c.710-445G>A
  • NM_001408412.1:c.710-445G>A
  • NM_001408413.1:c.707-445G>A
  • NM_001408414.1:c.710-445G>A
  • NM_001408415.1:c.710-445G>A
  • NM_001408416.1:c.707-445G>A
  • NM_001408418.1:c.671-445G>A
  • NM_001408419.1:c.671-445G>A
  • NM_001408420.1:c.671-445G>A
  • NM_001408421.1:c.668-445G>A
  • NM_001408422.1:c.671-445G>A
  • NM_001408423.1:c.671-445G>A
  • NM_001408424.1:c.668-445G>A
  • NM_001408425.1:c.665-445G>A
  • NM_001408426.1:c.665-445G>A
  • NM_001408427.1:c.665-445G>A
  • NM_001408428.1:c.665-445G>A
  • NM_001408429.1:c.665-445G>A
  • NM_001408430.1:c.665-445G>A
  • NM_001408431.1:c.668-445G>A
  • NM_001408432.1:c.662-445G>A
  • NM_001408433.1:c.662-445G>A
  • NM_001408434.1:c.662-445G>A
  • NM_001408435.1:c.662-445G>A
  • NM_001408436.1:c.665-445G>A
  • NM_001408437.1:c.665-445G>A
  • NM_001408438.1:c.665-445G>A
  • NM_001408439.1:c.665-445G>A
  • NM_001408440.1:c.665-445G>A
  • NM_001408441.1:c.665-445G>A
  • NM_001408442.1:c.665-445G>A
  • NM_001408443.1:c.665-445G>A
  • NM_001408444.1:c.665-445G>A
  • NM_001408445.1:c.662-445G>A
  • NM_001408446.1:c.662-445G>A
  • NM_001408447.1:c.662-445G>A
  • NM_001408448.1:c.662-445G>A
  • NM_001408450.1:c.662-445G>A
  • NM_001408451.1:c.653-445G>A
  • NM_001408452.1:c.647-445G>A
  • NM_001408453.1:c.647-445G>A
  • NM_001408454.1:c.647-445G>A
  • NM_001408455.1:c.647-445G>A
  • NM_001408456.1:c.647-445G>A
  • NM_001408457.1:c.647-445G>A
  • NM_001408458.1:c.647-445G>A
  • NM_001408459.1:c.647-445G>A
  • NM_001408460.1:c.647-445G>A
  • NM_001408461.1:c.647-445G>A
  • NM_001408462.1:c.644-445G>A
  • NM_001408463.1:c.644-445G>A
  • NM_001408464.1:c.644-445G>A
  • NM_001408465.1:c.644-445G>A
  • NM_001408466.1:c.647-445G>A
  • NM_001408467.1:c.647-445G>A
  • NM_001408468.1:c.644-445G>A
  • NM_001408469.1:c.647-445G>A
  • NM_001408470.1:c.644-445G>A
  • NM_001408472.1:c.788-445G>A
  • NM_001408473.1:c.785-445G>A
  • NM_001408474.1:c.587-445G>A
  • NM_001408475.1:c.584-445G>A
  • NM_001408476.1:c.587-445G>A
  • NM_001408478.1:c.578-445G>A
  • NM_001408479.1:c.578-445G>A
  • NM_001408480.1:c.578-445G>A
  • NM_001408481.1:c.578-445G>A
  • NM_001408482.1:c.578-445G>A
  • NM_001408483.1:c.578-445G>A
  • NM_001408484.1:c.578-445G>A
  • NM_001408485.1:c.578-445G>A
  • NM_001408489.1:c.578-445G>A
  • NM_001408490.1:c.575-445G>A
  • NM_001408491.1:c.575-445G>A
  • NM_001408492.1:c.578-445G>A
  • NM_001408493.1:c.575-445G>A
  • NM_001408494.1:c.548-445G>A
  • NM_001408495.1:c.545-445G>A
  • NM_001408496.1:c.524-445G>A
  • NM_001408497.1:c.524-445G>A
  • NM_001408498.1:c.524-445G>A
  • NM_001408499.1:c.524-445G>A
  • NM_001408500.1:c.524-445G>A
  • NM_001408501.1:c.524-445G>A
  • NM_001408502.1:c.455-445G>A
  • NM_001408503.1:c.521-445G>A
  • NM_001408504.1:c.521-445G>A
  • NM_001408505.1:c.521-445G>A
  • NM_001408506.1:c.461-445G>A
  • NM_001408507.1:c.461-445G>A
  • NM_001408508.1:c.452-445G>A
  • NM_001408509.1:c.452-445G>A
  • NM_001408510.1:c.407-445G>A
  • NM_001408511.1:c.404-445G>A
  • NM_001408512.1:c.284-445G>A
  • NM_001408513.1:c.578-445G>A
  • NM_001408514.1:c.578-445G>A
  • NM_007294.4:c.4054G>AMANE SELECT
  • NM_007297.4:c.3913G>A
  • NM_007298.4:c.788-445G>A
  • NM_007299.4:c.788-445G>A
  • NM_007300.4:c.4054G>A
  • NP_001394500.1:p.Glu1281Lys
  • NP_001394510.1:p.Glu1352Lys
  • NP_001394511.1:p.Glu1352Lys
  • NP_001394512.1:p.Glu1352Lys
  • NP_001394514.1:p.Glu1352Lys
  • NP_001394516.1:p.Glu1351Lys
  • NP_001394519.1:p.Glu1351Lys
  • NP_001394520.1:p.Glu1351Lys
  • NP_001394522.1:p.Glu1352Lys
  • NP_001394523.1:p.Glu1352Lys
  • NP_001394525.1:p.Glu1352Lys
  • NP_001394526.1:p.Glu1352Lys
  • NP_001394527.1:p.Glu1352Lys
  • NP_001394531.1:p.Glu1352Lys
  • NP_001394532.1:p.Glu1352Lys
  • NP_001394534.1:p.Glu1352Lys
  • NP_001394539.1:p.Glu1351Lys
  • NP_001394540.1:p.Glu1351Lys
  • NP_001394541.1:p.Glu1351Lys
  • NP_001394542.1:p.Glu1351Lys
  • NP_001394543.1:p.Glu1351Lys
  • NP_001394544.1:p.Glu1351Lys
  • NP_001394545.1:p.Glu1352Lys
  • NP_001394546.1:p.Glu1352Lys
  • NP_001394547.1:p.Glu1352Lys
  • NP_001394548.1:p.Glu1352Lys
  • NP_001394549.1:p.Glu1352Lys
  • NP_001394550.1:p.Glu1352Lys
  • NP_001394551.1:p.Glu1352Lys
  • NP_001394552.1:p.Glu1352Lys
  • NP_001394553.1:p.Glu1352Lys
  • NP_001394554.1:p.Glu1352Lys
  • NP_001394555.1:p.Glu1352Lys
  • NP_001394556.1:p.Glu1351Lys
  • NP_001394557.1:p.Glu1351Lys
  • NP_001394558.1:p.Glu1351Lys
  • NP_001394559.1:p.Glu1351Lys
  • NP_001394560.1:p.Glu1351Lys
  • NP_001394561.1:p.Glu1351Lys
  • NP_001394562.1:p.Glu1351Lys
  • NP_001394563.1:p.Glu1351Lys
  • NP_001394564.1:p.Glu1351Lys
  • NP_001394565.1:p.Glu1351Lys
  • NP_001394566.1:p.Glu1351Lys
  • NP_001394567.1:p.Glu1351Lys
  • NP_001394568.1:p.Glu1352Lys
  • NP_001394569.1:p.Glu1352Lys
  • NP_001394570.1:p.Glu1352Lys
  • NP_001394571.1:p.Glu1352Lys
  • NP_001394573.1:p.Glu1351Lys
  • NP_001394574.1:p.Glu1351Lys
  • NP_001394575.1:p.Glu1349Lys
  • NP_001394576.1:p.Glu1349Lys
  • NP_001394577.1:p.Glu1311Lys
  • NP_001394578.1:p.Glu1310Lys
  • NP_001394581.1:p.Glu1352Lys
  • NP_001394582.1:p.Glu1326Lys
  • NP_001394583.1:p.Glu1326Lys
  • NP_001394584.1:p.Glu1326Lys
  • NP_001394585.1:p.Glu1326Lys
  • NP_001394586.1:p.Glu1326Lys
  • NP_001394587.1:p.Glu1326Lys
  • NP_001394588.1:p.Glu1325Lys
  • NP_001394589.1:p.Glu1325Lys
  • NP_001394590.1:p.Glu1325Lys
  • NP_001394591.1:p.Glu1325Lys
  • NP_001394592.1:p.Glu1326Lys
  • NP_001394593.1:p.Glu1311Lys
  • NP_001394594.1:p.Glu1311Lys
  • NP_001394595.1:p.Glu1311Lys
  • NP_001394596.1:p.Glu1311Lys
  • NP_001394597.1:p.Glu1311Lys
  • NP_001394598.1:p.Glu1311Lys
  • NP_001394599.1:p.Glu1310Lys
  • NP_001394600.1:p.Glu1310Lys
  • NP_001394601.1:p.Glu1310Lys
  • NP_001394602.1:p.Glu1310Lys
  • NP_001394603.1:p.Glu1311Lys
  • NP_001394604.1:p.Glu1311Lys
  • NP_001394605.1:p.Glu1311Lys
  • NP_001394606.1:p.Glu1311Lys
  • NP_001394607.1:p.Glu1311Lys
  • NP_001394608.1:p.Glu1311Lys
  • NP_001394609.1:p.Glu1311Lys
  • NP_001394610.1:p.Glu1311Lys
  • NP_001394611.1:p.Glu1311Lys
  • NP_001394612.1:p.Glu1311Lys
  • NP_001394613.1:p.Glu1352Lys
  • NP_001394614.1:p.Glu1310Lys
  • NP_001394615.1:p.Glu1310Lys
  • NP_001394616.1:p.Glu1310Lys
  • NP_001394617.1:p.Glu1310Lys
  • NP_001394618.1:p.Glu1310Lys
  • NP_001394619.1:p.Glu1310Lys
  • NP_001394620.1:p.Glu1310Lys
  • NP_001394621.1:p.Glu1305Lys
  • NP_001394623.1:p.Glu1305Lys
  • NP_001394624.1:p.Glu1305Lys
  • NP_001394625.1:p.Glu1305Lys
  • NP_001394626.1:p.Glu1305Lys
  • NP_001394627.1:p.Glu1305Lys
  • NP_001394653.1:p.Glu1305Lys
  • NP_001394654.1:p.Glu1305Lys
  • NP_001394655.1:p.Glu1305Lys
  • NP_001394656.1:p.Glu1305Lys
  • NP_001394657.1:p.Glu1305Lys
  • NP_001394658.1:p.Glu1305Lys
  • NP_001394659.1:p.Glu1305Lys
  • NP_001394660.1:p.Glu1305Lys
  • NP_001394661.1:p.Glu1305Lys
  • NP_001394662.1:p.Glu1305Lys
  • NP_001394663.1:p.Glu1305Lys
  • NP_001394664.1:p.Glu1305Lys
  • NP_001394665.1:p.Glu1305Lys
  • NP_001394666.1:p.Glu1305Lys
  • NP_001394667.1:p.Glu1305Lys
  • NP_001394668.1:p.Glu1305Lys
  • NP_001394669.1:p.Glu1304Lys
  • NP_001394670.1:p.Glu1304Lys
  • NP_001394671.1:p.Glu1304Lys
  • NP_001394672.1:p.Glu1304Lys
  • NP_001394673.1:p.Glu1304Lys
  • NP_001394674.1:p.Glu1304Lys
  • NP_001394675.1:p.Glu1304Lys
  • NP_001394676.1:p.Glu1304Lys
  • NP_001394677.1:p.Glu1304Lys
  • NP_001394678.1:p.Glu1304Lys
  • NP_001394679.1:p.Glu1305Lys
  • NP_001394680.1:p.Glu1305Lys
  • NP_001394681.1:p.Glu1305Lys
  • NP_001394767.1:p.Glu1304Lys
  • NP_001394768.1:p.Glu1304Lys
  • NP_001394770.1:p.Glu1304Lys
  • NP_001394771.1:p.Glu1304Lys
  • NP_001394772.1:p.Glu1304Lys
  • NP_001394773.1:p.Glu1304Lys
  • NP_001394774.1:p.Glu1304Lys
  • NP_001394775.1:p.Glu1304Lys
  • NP_001394776.1:p.Glu1304Lys
  • NP_001394777.1:p.Glu1304Lys
  • NP_001394778.1:p.Glu1304Lys
  • NP_001394779.1:p.Glu1305Lys
  • NP_001394780.1:p.Glu1305Lys
  • NP_001394781.1:p.Glu1305Lys
  • NP_001394782.1:p.Glu1281Lys
  • NP_001394783.1:p.Glu1352Lys
  • NP_001394787.1:p.Glu1352Lys
  • NP_001394788.1:p.Glu1352Lys
  • NP_001394789.1:p.Glu1351Lys
  • NP_001394790.1:p.Glu1351Lys
  • NP_001394791.1:p.Glu1285Lys
  • NP_001394792.1:p.Glu1311Lys
  • NP_001394803.1:p.Glu1284Lys
  • NP_001394804.1:p.Glu1284Lys
  • NP_001394808.1:p.Glu1282Lys
  • NP_001394810.1:p.Glu1282Lys
  • NP_001394811.1:p.Glu1282Lys
  • NP_001394813.1:p.Glu1282Lys
  • NP_001394814.1:p.Glu1282Lys
  • NP_001394815.1:p.Glu1282Lys
  • NP_001394816.1:p.Glu1282Lys
  • NP_001394818.1:p.Glu1282Lys
  • NP_001394823.1:p.Glu1281Lys
  • NP_001394824.1:p.Glu1281Lys
  • NP_001394825.1:p.Glu1281Lys
  • NP_001394826.1:p.Glu1281Lys
  • NP_001394827.1:p.Glu1281Lys
  • NP_001394828.1:p.Glu1281Lys
  • NP_001394829.1:p.Glu1282Lys
  • NP_001394831.1:p.Glu1282Lys
  • NP_001394833.1:p.Glu1282Lys
  • NP_001394835.1:p.Glu1282Lys
  • NP_001394836.1:p.Glu1282Lys
  • NP_001394837.1:p.Glu1282Lys
  • NP_001394838.1:p.Glu1282Lys
  • NP_001394839.1:p.Glu1282Lys
  • NP_001394844.1:p.Glu1281Lys
  • NP_001394845.1:p.Glu1281Lys
  • NP_001394846.1:p.Glu1281Lys
  • NP_001394847.1:p.Glu1281Lys
  • NP_001394848.1:p.Glu1311Lys
  • NP_001394849.1:p.Glu1264Lys
  • NP_001394850.1:p.Glu1264Lys
  • NP_001394851.1:p.Glu1264Lys
  • NP_001394852.1:p.Glu1264Lys
  • NP_001394853.1:p.Glu1264Lys
  • NP_001394854.1:p.Glu1264Lys
  • NP_001394855.1:p.Glu1264Lys
  • NP_001394856.1:p.Glu1264Lys
  • NP_001394857.1:p.Glu1264Lys
  • NP_001394858.1:p.Glu1264Lys
  • NP_001394859.1:p.Glu1263Lys
  • NP_001394860.1:p.Glu1263Lys
  • NP_001394861.1:p.Glu1263Lys
  • NP_001394862.1:p.Glu1264Lys
  • NP_001394863.1:p.Glu1263Lys
  • NP_001394864.1:p.Glu1264Lys
  • NP_001394865.1:p.Glu1263Lys
  • NP_001394866.1:p.Glu1311Lys
  • NP_001394867.1:p.Glu1311Lys
  • NP_001394868.1:p.Glu1311Lys
  • NP_001394869.1:p.Glu1310Lys
  • NP_001394870.1:p.Glu1310Lys
  • NP_001394871.1:p.Glu1305Lys
  • NP_001394872.1:p.Glu1304Lys
  • NP_001394873.1:p.Glu1305Lys
  • NP_001394874.1:p.Glu1305Lys
  • NP_001394875.1:p.Glu1241Lys
  • NP_001394876.1:p.Glu1241Lys
  • NP_001394877.1:p.Glu1241Lys
  • NP_001394878.1:p.Glu1241Lys
  • NP_001394879.1:p.Glu1241Lys
  • NP_001394880.1:p.Glu1241Lys
  • NP_001394881.1:p.Glu1241Lys
  • NP_001394882.1:p.Glu1241Lys
  • NP_001394883.1:p.Glu1240Lys
  • NP_001394884.1:p.Glu1240Lys
  • NP_001394885.1:p.Glu1240Lys
  • NP_001394886.1:p.Glu1241Lys
  • NP_001394887.1:p.Glu1240Lys
  • NP_001394888.1:p.Glu1225Lys
  • NP_001394889.1:p.Glu1225Lys
  • NP_001394891.1:p.Glu1224Lys
  • NP_001394892.1:p.Glu1225Lys
  • NP_001394893.1:p.Glu1304Lys
  • NP_001394894.1:p.Glu1184Lys
  • NP_001394895.1:p.Glu1056Lys
  • NP_001394896.1:p.Glu1056Lys
  • NP_001394897.1:p.Glu484Lys
  • NP_001394898.1:p.Glu484Lys
  • NP_009225.1:p.Glu1352Lys
  • NP_009225.1:p.Glu1352Lys
  • NP_009228.2:p.Glu1305Lys
  • NP_009231.2:p.Glu1352Lys
  • LRG_292t1:c.4054G>A
  • LRG_292:g.126507G>A
  • LRG_292p1:p.Glu1352Lys
  • NC_000017.10:g.41243494C>T
  • NM_007294.3:c.4054G>A
  • NR_027676.1:n.4190G>A
  • U14680.1:n.4173G>A
  • p.E1352K
Protein change:
E1056K
Links:
dbSNP: rs80357202
NCBI 1000 Genomes Browser:
rs80357202
Molecular consequence:
  • NM_001407970.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-454G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-445G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4045G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3976G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4051G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3853G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3850G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3850G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3844G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3841G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3787G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3787G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3787G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3787G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3790G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3787G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3718G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3718G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3718G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3721G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3718G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3670G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3673G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3910G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3166G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3166G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.1450G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000144949Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Nov 25, 2004) 		germlineclinical testing

SCV004228356Department of Medical and Surgical Sciences, University of Bologna
no assertion criteria provided
Benign
(Sep 1, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
Western Europeangermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144949.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Department of Medical and Surgical Sciences, University of Bologna, SCV004228356.1

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

Description

BS1(Supporting)+BS3(Strong)+BP5(Moderate) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

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

Last Updated: Oct 26, 2024