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rs80359342

From SNPedia

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


Make rs80359342(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337039
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359342
ebirs80359342
HLIrs80359342
Exacrs80359342
Varsomers80359342
Maprs80359342
PheGenIrs80359342
hapmaprs80359342
1000 genomesrs80359342
hgdprs80359342
ensemblrs80359342
gopubmedrs80359342
geneviewrs80359342
scholarrs80359342
googlers80359342
pharmgkbrs80359342
gwascentralrs80359342
openSNPrs80359342
23andMers80359342
23andMe allrs80359342
SNP Nexus

SNPshotrs80359342
SNPdbers80359342
MSV3drs80359342
GWAS Ctlgrs80359342
Max Magnitude6
rs80359342, also known as 2912delC, c.2684_2684delC and p.Ala895Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359342(;)
Alt rs80359342(;)
Reference rs80359342(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.32911176delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044038.2, RCV000113076.1,