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rs80359183

From SNPedia

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


Make rs80359183(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32380096
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359183
ebirs80359183
HLIrs80359183
Exacrs80359183
Varsomers80359183
Maprs80359183
PheGenIrs80359183
hapmaprs80359183
1000 genomesrs80359183
hgdprs80359183
ensemblrs80359183
gopubmedrs80359183
geneviewrs80359183
scholarrs80359183
googlers80359183
pharmgkbrs80359183
gwascentralrs80359183
openSNPrs80359183
23andMers80359183
23andMe allrs80359183
SNP Nexus

SNPshotrs80359183
SNPdbers80359183
MSV3drs80359183
GWAS Ctlgrs80359183
Max Magnitude6
rs80359183, also known as C3069X, c.9207T>A and p.Cys3069Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359183(A;A)
Alt rs80359183(A;A)
Reference rs80359183(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32954233T>A; NC_000013.10:g.32954233T>C
CLNSRC ClinVar
CLNACC RCV000045747.2, RCV000114065.1, RCV000214550.1,