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rs80359367

From SNPedia

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


Make rs80359367(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337406
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359367
ebirs80359367
HLIrs80359367
Exacrs80359367
Varsomers80359367
Maprs80359367
PheGenIrs80359367
hapmaprs80359367
1000 genomesrs80359367
hgdprs80359367
ensemblrs80359367
gopubmedrs80359367
geneviewrs80359367
scholarrs80359367
googlers80359367
pharmgkbrs80359367
gwascentralrs80359367
openSNPrs80359367
23andMers80359367
23andMe allrs80359367
SNP Nexus

SNPshotrs80359367
SNPdbers80359367
MSV3drs80359367
GWAS Ctlgrs80359367
Max Magnitude6
rs80359367, also known as 3279delC, c.3051_3051delC and p.Ile1017=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359367(;)
Alt rs80359367(;)
Reference rs80359367(C;C)
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.32911543delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044107.2, RCV000113127.1,