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rs80358461

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358461(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333267
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358461
ebirs80358461
HLIrs80358461
Exacrs80358461
Varsomers80358461
Maprs80358461
PheGenIrs80358461
hapmaprs80358461
1000 genomesrs80358461
hgdprs80358461
ensemblrs80358461
gopubmedrs80358461
geneviewrs80358461
scholarrs80358461
googlers80358461
pharmgkbrs80358461
gwascentralrs80358461
openSNPrs80358461
23andMers80358461
23andMe allrs80358461
SNP Nexus

SNPshotrs80358461
SNPdbers80358461
MSV3drs80358461
GWAS Ctlgrs80358461
Max Magnitude6
rs80358461, also known as E597X, c.1789G>T and p.Glu597Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358461(T;T)
Alt rs80358461(T;T)
Reference rs80358461(G;G)
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.32907404G>T
CLNSRC ClinVar
CLNACC RCV000043884.2, RCV000112969.1,