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rs80359344

From SNPedia

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


Make rs80359344(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337086
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359344
ebirs80359344
HLIrs80359344
Exacrs80359344
Varsomers80359344
Maprs80359344
PheGenIrs80359344
hapmaprs80359344
1000 genomesrs80359344
hgdprs80359344
ensemblrs80359344
gopubmedrs80359344
geneviewrs80359344
scholarrs80359344
googlers80359344
pharmgkbrs80359344
gwascentralrs80359344
openSNPrs80359344
23andMers80359344
23andMe allrs80359344
SNP Nexus

SNPshotrs80359344
SNPdbers80359344
MSV3drs80359344
GWAS Ctlgrs80359344
Max Magnitude6
rs80359344, also known as 2959delG, c.2731_2731delG and p.Glu911Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359344(;)
Alt rs80359344(;)
Reference rs80359344(G;G)
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.32911223delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044043.2, RCV000113084.1,