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rs80359733

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359733(-;-)
Make rs80359733(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379508
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359733
ebirs80359733
HLIrs80359733
Exacrs80359733
Varsomers80359733
Maprs80359733
PheGenIrs80359733
hapmaprs80359733
1000 genomesrs80359733
hgdprs80359733
ensemblrs80359733
gopubmedrs80359733
geneviewrs80359733
scholarrs80359733
googlers80359733
pharmgkbrs80359733
gwascentralrs80359733
openSNPrs80359733
23andMers80359733
23andMe allrs80359733
SNP Nexus

SNPshotrs80359733
SNPdbers80359733
MSV3drs80359733
GWAS Ctlgrs80359733
Max Magnitude6
rs80359733, also known as 9174insA, c.8946_8947insA and p.Lys2982_Asp2983?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359733(A;A)
Alt rs80359733(A;A)
Reference rs80359733(;)
Significance Pathogenic
Disease Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32953645dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031779.4, RCV000223659.1,