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rs80358438

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358438(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333006
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358438
ebirs80358438
HLIrs80358438
Exacrs80358438
Varsomers80358438
Maprs80358438
PheGenIrs80358438
hapmaprs80358438
1000 genomesrs80358438
hgdprs80358438
ensemblrs80358438
gopubmedrs80358438
geneviewrs80358438
scholarrs80358438
googlers80358438
pharmgkbrs80358438
gwascentralrs80358438
openSNPrs80358438
23andMers80358438
23andMe allrs80358438
SNP Nexus

SNPshotrs80358438
SNPdbers80358438
MSV3drs80358438
GWAS Ctlgrs80358438
Max Magnitude6
rs80358438, also known as E510X, c.1528G>T and p.Glu510Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358438(T;T)
Alt rs80358438(T;T)
Reference rs80358438(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.32907143G>T
CLNSRC ClinVar
CLNACC RCV000043823.2, RCV000112930.1,