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rs80359134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359134(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379335
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359134
ebirs80359134
HLIrs80359134
Exacrs80359134
Varsomers80359134
Maprs80359134
PheGenIrs80359134
hapmaprs80359134
1000 genomesrs80359134
hgdprs80359134
ensemblrs80359134
gopubmedrs80359134
geneviewrs80359134
scholarrs80359134
googlers80359134
pharmgkbrs80359134
gwascentralrs80359134
openSNPrs80359134
23andMers80359134
23andMe allrs80359134
SNP Nexus

SNPshotrs80359134
SNPdbers80359134
MSV3drs80359134
GWAS Ctlgrs80359134
Max Magnitude6
rs80359134, also known as Q2925X, c.8773C>T and p.Gln2925Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359134(T;T)
Alt rs80359134(T;T)
Reference rs80359134(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.32953472C>T
CLNSRC ClinVar
CLNACC RCV000045625.2, RCV000113998.1,