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rs80359287

From SNPedia

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


Make rs80359287(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319160
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359287
ebirs80359287
HLIrs80359287
Exacrs80359287
Varsomers80359287
Maprs80359287
PheGenIrs80359287
hapmaprs80359287
1000 genomesrs80359287
hgdprs80359287
ensemblrs80359287
gopubmedrs80359287
geneviewrs80359287
scholarrs80359287
googlers80359287
pharmgkbrs80359287
gwascentralrs80359287
openSNPrs80359287
23andMers80359287
23andMe allrs80359287
SNP Nexus

SNPshotrs80359287
SNPdbers80359287
MSV3drs80359287
GWAS Ctlgrs80359287
Max Magnitude6
rs80359287, also known as 379delG, c.151_151delG and p.Glu51Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359287(;)
Alt rs80359287(;)
Reference rs80359287(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.32893297delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043822.2, RCV000113193.1,