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rs80356974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80356974(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063917
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356974
ebirs80356974
HLIrs80356974
Exacrs80356974
Varsomers80356974
Maprs80356974
PheGenIrs80356974
hapmaprs80356974
1000 genomesrs80356974
hgdprs80356974
ensemblrs80356974
gopubmedrs80356974
geneviewrs80356974
scholarrs80356974
googlers80356974
pharmgkbrs80356974
gwascentralrs80356974
openSNPrs80356974
23andMers80356974
23andMe allrs80356974
SNP Nexus

SNPshotrs80356974
SNPdbers80356974
MSV3drs80356974
GWAS Ctlgrs80356974
Max Magnitude6
rs80356974, also known as Y1703X, c.5109T>G and p.Tyr1703Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356974(G;G)
Alt rs80356974(G;G)
Reference rs80356974(T;T)
Significance Pathogenic
Disease not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN not provided Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41215934A>C; NC_000017.10:g.41215934A>G
CLNSRC ClinVar
CLNACC RCV000048797.5, RCV000077597.3, RCV000162883.1, RCV000195365.2, RCV000226733.1,