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rs80358504

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80358504(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336764
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358504
ebirs80358504
HLIrs80358504
Exacrs80358504
Varsomers80358504
Maprs80358504
PheGenIrs80358504
hapmaprs80358504
1000 genomesrs80358504
hgdprs80358504
ensemblrs80358504
gopubmedrs80358504
geneviewrs80358504
scholarrs80358504
googlers80358504
pharmgkbrs80358504
gwascentralrs80358504
openSNPrs80358504
23andMers80358504
23andMe allrs80358504
SNP Nexus

SNPshotrs80358504
SNPdbers80358504
MSV3drs80358504
GWAS Ctlgrs80358504
Max Magnitude6
rs80358504, also known as Y803X, c.2409T>G and p.Tyr803Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358504(C,G;C,G)
Alt rs80358504(C,G;C,G)
Reference rs80358504(T;T)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Familial cancer of breast not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Familial cancer of breast not provided
Reversed 0
HGVS NC_000013.10:g.32910901T>C; NC_000013.10:g.32910901T>G
CLNSRC ClinVar
CLNACC RCV000227043.1, RCV000031365.4, RCV000043984.4, RCV000212221.1,