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rs80359346

From SNPedia

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


Make rs80359346(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337115
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359346
ebirs80359346
HLIrs80359346
Exacrs80359346
Varsomers80359346
Maprs80359346
PheGenIrs80359346
hapmaprs80359346
1000 genomesrs80359346
hgdprs80359346
ensemblrs80359346
gopubmedrs80359346
geneviewrs80359346
scholarrs80359346
googlers80359346
pharmgkbrs80359346
gwascentralrs80359346
openSNPrs80359346
23andMers80359346
23andMe allrs80359346
SNP Nexus

SNPshotrs80359346
SNPdbers80359346
MSV3drs80359346
GWAS Ctlgrs80359346
Max Magnitude6
rs80359346, also known as 2988delC, c.2760_2760delC and p.Pro920=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359346(;)
Alt rs80359346(;)
Reference rs80359346(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.32911252delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044049.2, RCV000113088.2,