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rs80359674

From SNPedia

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


Make rs80359674(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32357813
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359674
ebirs80359674
HLIrs80359674
Exacrs80359674
Varsomers80359674
Maprs80359674
PheGenIrs80359674
hapmaprs80359674
1000 genomesrs80359674
hgdprs80359674
ensemblrs80359674
gopubmedrs80359674
geneviewrs80359674
scholarrs80359674
googlers80359674
pharmgkbrs80359674
gwascentralrs80359674
openSNPrs80359674
23andMers80359674
23andMe allrs80359674
SNP Nexus

SNPshotrs80359674
SNPdbers80359674
MSV3drs80359674
GWAS Ctlgrs80359674
Max Magnitude6
rs80359674, also known as 7917delC, c.7689_7689delC and p.His2563Glnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359674(;)
Alt rs80359674(;)
Reference rs80359674(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32931950delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045289.2, RCV000077407.3, RCV000165023.1,