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rs80359015

From SNPedia

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


Make rs80359015(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362603
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359015
dbSNP (classic)rs80359015
ClinGenrs80359015
ebirs80359015
HLIrs80359015
Exacrs80359015
Gnomadrs80359015
Varsomers80359015
LitVarrs80359015
Maprs80359015
PheGenIrs80359015
Biobankrs80359015
1000 genomesrs80359015
hgdprs80359015
ensemblrs80359015
geneviewrs80359015
scholarrs80359015
googlers80359015
pharmgkbrs80359015
gwascentralrs80359015
openSNPrs80359015
23andMers80359015
SNPshotrs80359015
SNPdbers80359015
MSV3drs80359015
GWAS Ctlgrs80359015
Max Magnitude6

rs80359015, also known as W2629X, c.7886G>A and p.Trp2629Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359015(A;A)
Alt rs80359015(A;A)
Reference Rs80359015(G;G)
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.32936740G>A
CLNSRC ClinVar
CLNACC RCV000045339.2, RCV000113835.2,