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rs80359606

From SNPedia

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


Make rs80359606(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340946
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359606
ebirs80359606
HLIrs80359606
Exacrs80359606
Varsomers80359606
Maprs80359606
PheGenIrs80359606
hapmaprs80359606
1000 genomesrs80359606
hgdprs80359606
ensemblrs80359606
gopubmedrs80359606
geneviewrs80359606
scholarrs80359606
googlers80359606
pharmgkbrs80359606
gwascentralrs80359606
openSNPrs80359606
23andMers80359606
23andMe allrs80359606
SNP Nexus

SNPshotrs80359606
SNPdbers80359606
MSV3drs80359606
GWAS Ctlgrs80359606
Max Magnitude6
rs80359606, also known as 6819delT, c.6591_6591delT and p.Thr2197=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359606(;)
Alt rs80359606(;)
Reference rs80359606(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32915083delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113610.1,