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rs80359284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359284(-;-)
Make rs80359284(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position32332886
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359284
ebirs80359284
HLIrs80359284
Exacrs80359284
Varsomers80359284
Maprs80359284
PheGenIrs80359284
hapmaprs80359284
1000 genomesrs80359284
hgdprs80359284
ensemblrs80359284
gopubmedrs80359284
geneviewrs80359284
scholarrs80359284
googlers80359284
pharmgkbrs80359284
gwascentralrs80359284
openSNPrs80359284
23andMers80359284
23andMe allrs80359284
SNP Nexus

SNPshotrs80359284
SNPdbers80359284
MSV3drs80359284
GWAS Ctlgrs80359284
Max Magnitude6
rs80359284, also known as 1636insG, c.1408_1409insG and p.Glu470?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359284(G;G)
Alt rs80359284(G;G)
Reference rs80359284(;)
Significance Pathogenic
Disease Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32907023dupG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000112918.1, RCV000214396.1,