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rs80359210

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359210(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394808
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359210
ebirs80359210
HLIrs80359210
Exacrs80359210
Varsomers80359210
Maprs80359210
PheGenIrs80359210
hapmaprs80359210
1000 genomesrs80359210
hgdprs80359210
ensemblrs80359210
gopubmedrs80359210
geneviewrs80359210
scholarrs80359210
googlers80359210
pharmgkbrs80359210
gwascentralrs80359210
openSNPrs80359210
23andMers80359210
23andMe allrs80359210
SNP Nexus

SNPshotrs80359210
SNPdbers80359210
MSV3drs80359210
GWAS Ctlgrs80359210
Max Magnitude6
rs80359210, also known as Q3126X, c.9376C>T and p.Gln3126Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359210(T;T)
Alt rs80359210(T;T)
Reference rs80359210(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32968945C>T
CLNSRC ClinVar
CLNACC RCV000045805.5, RCV000114100.1,