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rs80358485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80358485(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336419
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358485
ebirs80358485
HLIrs80358485
Exacrs80358485
Varsomers80358485
Maprs80358485
PheGenIrs80358485
hapmaprs80358485
1000 genomesrs80358485
hgdprs80358485
ensemblrs80358485
gopubmedrs80358485
geneviewrs80358485
scholarrs80358485
googlers80358485
pharmgkbrs80358485
gwascentralrs80358485
openSNPrs80358485
23andMers80358485
23andMe allrs80358485
SNP Nexus

SNPshotrs80358485
SNPdbers80358485
MSV3drs80358485
GWAS Ctlgrs80358485
Max Magnitude6
rs80358485, also known as Y688X, c.2064T>G and p.Tyr688Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358485(G;G)
Alt rs80358485(G;G)
Reference rs80358485(T;T)
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.32910556T>G
CLNSRC ClinVar
CLNACC RCV000043940.2, RCV000113009.1,