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rs80358428

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358428(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332889
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358428
ebirs80358428
HLIrs80358428
Exacrs80358428
Varsomers80358428
Maprs80358428
PheGenIrs80358428
hapmaprs80358428
1000 genomesrs80358428
hgdprs80358428
ensemblrs80358428
gopubmedrs80358428
geneviewrs80358428
scholarrs80358428
googlers80358428
pharmgkbrs80358428
gwascentralrs80358428
openSNPrs80358428
23andMers80358428
23andMe allrs80358428
SNP Nexus

SNPshotrs80358428
SNPdbers80358428
MSV3drs80358428
GWAS Ctlgrs80358428
Max Magnitude6
rs80358428, also known as E471X, c.1411G>T and p.Glu471Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358428(T;T)
Alt rs80358428(T;T)
Reference rs80358428(G;G)
Significance Pathogenic
Disease not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32907026G>T
CLNSRC ClinVar
CLNACC RCV000043801.5, RCV000112919.1, RCV000162910.1, RCV000195351.1,