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rs80358994

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358994(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32357805
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358994
ebirs80358994
HLIrs80358994
Exacrs80358994
Varsomers80358994
Maprs80358994
PheGenIrs80358994
hapmaprs80358994
1000 genomesrs80358994
hgdprs80358994
ensemblrs80358994
gopubmedrs80358994
geneviewrs80358994
scholarrs80358994
googlers80358994
pharmgkbrs80358994
gwascentralrs80358994
openSNPrs80358994
23andMers80358994
23andMe allrs80358994
SNP Nexus

SNPshotrs80358994
SNPdbers80358994
MSV3drs80358994
GWAS Ctlgrs80358994
Max Magnitude6
rs80358994, also known as Q2561X, c.7681C>T and p.Gln2561Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358994(T;T)
Alt rs80358994(T;T)
Reference rs80358994(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.32931942C>T
CLNSRC ClinVar
CLNACC RCV000045286.2, RCV000083140.3,