Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359651

From SNPedia

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


Make rs80359651(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32355272
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359651
ebirs80359651
HLIrs80359651
Exacrs80359651
Varsomers80359651
Maprs80359651
PheGenIrs80359651
hapmaprs80359651
1000 genomesrs80359651
hgdprs80359651
ensemblrs80359651
gopubmedrs80359651
geneviewrs80359651
scholarrs80359651
googlers80359651
pharmgkbrs80359651
gwascentralrs80359651
openSNPrs80359651
23andMers80359651
23andMe allrs80359651
SNP Nexus

SNPshotrs80359651
SNPdbers80359651
MSV3drs80359651
GWAS Ctlgrs80359651
Max Magnitude6
rs80359651, also known as 7647delTG, c.7419_7420delTG and p.Cys2473_Glu2474TerArgfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359651(;)
Alt rs80359651(;)
Reference rs80359651(GT;GT)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32929409_32929410delTG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031677.5, RCV000045206.2,