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

rs80359502

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ATAATGATTCAGGATAT) 6 BRCA2 variant considered pathogenic for breast cancer
(TATATAATGATTCAGGA;TATATAATGATTCAGGA) 0 common in clinvar
Make rs80359502(-;-)
Make rs80359502(ATAATGATTCAGGATAT;ATAATGATTCAGGATAT)
ReferenceGRCh38 38.1/142
Chromosome13
Position32339625
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359502
ebirs80359502
HLIrs80359502
Exacrs80359502
Varsomers80359502
Maprs80359502
PheGenIrs80359502
hapmaprs80359502
1000 genomesrs80359502
hgdprs80359502
ensemblrs80359502
gopubmedrs80359502
geneviewrs80359502
scholarrs80359502
googlers80359502
pharmgkbrs80359502
gwascentralrs80359502
openSNPrs80359502
23andMers80359502
23andMe allrs80359502
SNP Nexus

SNPshotrs80359502
SNPdbers80359502
MSV3drs80359502
GWAS Ctlgrs80359502
Max Magnitude6
rs80359502, also known as 5498del17, c.5270_5286del and p.Tyr1757_Tyr1762?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359502(;)
Alt rs80359502(;)
Reference rs80359502(TATATAATGATTCAGGA;TATATAATGATTCAGGA)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913762_32913778del17
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113412.1,