Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358641

From SNPedia

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


Make rs80358641(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338294
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358641
ebirs80358641
HLIrs80358641
Exacrs80358641
Varsomers80358641
Maprs80358641
PheGenIrs80358641
hapmaprs80358641
1000 genomesrs80358641
hgdprs80358641
ensemblrs80358641
gopubmedrs80358641
geneviewrs80358641
scholarrs80358641
googlers80358641
pharmgkbrs80358641
gwascentralrs80358641
openSNPrs80358641
23andMers80358641
23andMe allrs80358641
SNP Nexus

SNPshotrs80358641
SNPdbers80358641
MSV3drs80358641
GWAS Ctlgrs80358641
Max Magnitude6
rs80358641, also known as Y1313X, c.3939C>A and p.Tyr1313Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358641(A,G;A,G)
Alt rs80358641(A,G;A,G)
Reference rs80358641(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32912431C>A; NC_000013.10:g.32912431C>G
CLNSRC ClinVar
CLNACC RCV000044317.2, RCV000113246.1, RCV000082922.3,