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rs80359443

From SNPedia

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


Make rs80359443(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338694
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359443
ClinGenrs80359443
ebirs80359443
HLIrs80359443
Exacrs80359443
Varsomers80359443
Maprs80359443
PheGenIrs80359443
hapmaprs80359443
1000 genomesrs80359443
hgdprs80359443
ensemblrs80359443
gopubmedrs80359443
geneviewrs80359443
scholarrs80359443
googlers80359443
pharmgkbrs80359443
gwascentralrs80359443
openSNPrs80359443
23andMers80359443
23andMe allrs80359443
SNP Nexus

SNPshotrs80359443
SNPdbers80359443
MSV3drs80359443
GWAS Ctlgrs80359443
Max Magnitude6
rs80359443, also known as 4567delG, c.4339_4339delG and p.Val1447Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359443(-;-)
Alt rs80359443(-;-)
Reference Rs80359443(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.32912831delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044396.2, RCV000113297.2,