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rs80359294

From SNPedia

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


Make rs80359294(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333095
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359294
ebirs80359294
HLIrs80359294
Exacrs80359294
Varsomers80359294
Maprs80359294
PheGenIrs80359294
hapmaprs80359294
1000 genomesrs80359294
hgdprs80359294
ensemblrs80359294
gopubmedrs80359294
geneviewrs80359294
scholarrs80359294
googlers80359294
pharmgkbrs80359294
gwascentralrs80359294
openSNPrs80359294
23andMers80359294
23andMe allrs80359294
SNP Nexus

SNPshotrs80359294
SNPdbers80359294
MSV3drs80359294
GWAS Ctlgrs80359294
Max Magnitude6
rs80359294, also known as 1845delA, c.1617_1617delA and p.Gly539=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359294(;)
Alt rs80359294(;)
Reference rs80359294(A;A)
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.32907232delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043843.2, RCV000112943.1,