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rs80358828

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358828(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340314
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358828
ebirs80358828
HLIrs80358828
Exacrs80358828
Varsomers80358828
Maprs80358828
PheGenIrs80358828
hapmaprs80358828
1000 genomesrs80358828
hgdprs80358828
ensemblrs80358828
gopubmedrs80358828
geneviewrs80358828
scholarrs80358828
googlers80358828
pharmgkbrs80358828
gwascentralrs80358828
openSNPrs80358828
23andMers80358828
23andMe allrs80358828
SNP Nexus

SNPshotrs80358828
SNPdbers80358828
MSV3drs80358828
GWAS Ctlgrs80358828
Max Magnitude6
rs80358828, also known as Q1987X, c.5959C>T and p.Gln1987Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358828(T;T)
Alt rs80358828(T;T)
Reference rs80358828(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.32914451C>T
CLNSRC ClinVar
CLNACC RCV000044803.2, RCV000113510.1,