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rs80358763

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358763(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339759
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358763
ebirs80358763
HLIrs80358763
Exacrs80358763
Varsomers80358763
Maprs80358763
PheGenIrs80358763
hapmaprs80358763
1000 genomesrs80358763
hgdprs80358763
ensemblrs80358763
gopubmedrs80358763
geneviewrs80358763
scholarrs80358763
googlers80358763
pharmgkbrs80358763
gwascentralrs80358763
openSNPrs80358763
23andMers80358763
23andMe allrs80358763
SNP Nexus

SNPshotrs80358763
SNPdbers80358763
MSV3drs80358763
GWAS Ctlgrs80358763
Max Magnitude6
rs80358763, also known as Q1802X, c.5404C>T and p.Gln1802Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358763(T;T)
Alt rs80358763(T;T)
Reference rs80358763(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.32913896C>T
CLNSRC ClinVar
CLNACC RCV000044653.2, RCV000113426.1,