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rs80359288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359288(-;-)
Make rs80359288(G;G)
ReferenceGRCh38 38.1/142
Chromosome13
Position32333019
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359288
ebirs80359288
HLIrs80359288
Exacrs80359288
Varsomers80359288
Maprs80359288
PheGenIrs80359288
hapmaprs80359288
1000 genomesrs80359288
hgdprs80359288
ensemblrs80359288
gopubmedrs80359288
geneviewrs80359288
scholarrs80359288
googlers80359288
pharmgkbrs80359288
gwascentralrs80359288
openSNPrs80359288
23andMers80359288
23andMe allrs80359288
SNP Nexus

SNPshotrs80359288
SNPdbers80359288
MSV3drs80359288
GWAS Ctlgrs80359288
Max Magnitude6
rs80359288, also known as 1769insG, c.1541_1542insG and p.Glu514?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359288(G;G)
Alt rs80359288(G;G)
Reference rs80359288(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32907157dupG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000112932.1,