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

rs80359557

From SNPedia

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


Make rs80359557(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340433
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359557
ebirs80359557
HLIrs80359557
Exacrs80359557
Varsomers80359557
Maprs80359557
PheGenIrs80359557
hapmaprs80359557
1000 genomesrs80359557
hgdprs80359557
ensemblrs80359557
gopubmedrs80359557
geneviewrs80359557
scholarrs80359557
googlers80359557
pharmgkbrs80359557
gwascentralrs80359557
openSNPrs80359557
23andMers80359557
23andMe allrs80359557
SNP Nexus

SNPshotrs80359557
SNPdbers80359557
MSV3drs80359557
GWAS Ctlgrs80359557
Max Magnitude6
rs80359557, also known as 6306delAA, c.6078_6079delAA and p.Thr2026_Arg2027=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359557(;)
Alt rs80359557(;)
Reference rs80359557(AA;AA)
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.32914570_32914571delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044835.2, RCV000113527.2,