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rs80359693

From SNPedia

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


Make rs80359693(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363269
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359693
ebirs80359693
HLIrs80359693
Exacrs80359693
Varsomers80359693
Maprs80359693
PheGenIrs80359693
hapmaprs80359693
1000 genomesrs80359693
hgdprs80359693
ensemblrs80359693
gopubmedrs80359693
geneviewrs80359693
scholarrs80359693
googlers80359693
pharmgkbrs80359693
gwascentralrs80359693
openSNPrs80359693
23andMers80359693
23andMe allrs80359693
SNP Nexus

SNPshotrs80359693
SNPdbers80359693
MSV3drs80359693
GWAS Ctlgrs80359693
Max Magnitude6
rs80359693, also known as 8295delT, c.8067_8067delT and p.Cys2689Trpfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359693(;)
Alt rs80359693(;)
Reference rs80359693(T;T)
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.32937406delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045411.2, RCV000113865.1,