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rs80358631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358631(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338226
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358631
ebirs80358631
HLIrs80358631
Exacrs80358631
Varsomers80358631
Maprs80358631
PheGenIrs80358631
hapmaprs80358631
1000 genomesrs80358631
hgdprs80358631
ensemblrs80358631
gopubmedrs80358631
geneviewrs80358631
scholarrs80358631
googlers80358631
pharmgkbrs80358631
gwascentralrs80358631
openSNPrs80358631
23andMers80358631
23andMe allrs80358631
SNP Nexus

SNPshotrs80358631
SNPdbers80358631
MSV3drs80358631
GWAS Ctlgrs80358631
Max Magnitude6
rs80358631, also known as Q1291X, c.3871C>T and p.Gln1291Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358631(T;T)
Alt rs80358631(T;T)
Reference rs80358631(C;C)
Significance Other
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.32912363C>T
CLNSRC ClinVar
CLNACC RCV000044295.2, RCV000113234.3,