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rs80359159

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359159(C;G)
Make rs80359159(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379872
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359159
ebirs80359159
HLIrs80359159
Exacrs80359159
Varsomers80359159
Maprs80359159
PheGenIrs80359159
hapmaprs80359159
1000 genomesrs80359159
hgdprs80359159
ensemblrs80359159
gopubmedrs80359159
geneviewrs80359159
scholarrs80359159
googlers80359159
pharmgkbrs80359159
gwascentralrs80359159
openSNPrs80359159
23andMers80359159
23andMe allrs80359159
SNP Nexus

SNPshotrs80359159
SNPdbers80359159
MSV3drs80359159
GWAS Ctlgrs80359159
Max Magnitude6
rs80359159, also known as Q3026X, c.9076C>T and p.Gln3026Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359159(G,T;G,T)
Alt rs80359159(G,T;G,T)
Reference rs80359159(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32954009C>G; NC_000013.10:g.32954009C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000045705.2, RCV000114041.1, RCV000129636.2, RCV000031790.4, RCV000045706.2, RCV000131038.2,