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rs80359422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;C) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359422(-;-)
Make rs80359422(C;C)
ReferenceGRCh38 38.1/142
Chromosome13
Position32338403
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359422
ebirs80359422
HLIrs80359422
Exacrs80359422
Varsomers80359422
Maprs80359422
PheGenIrs80359422
hapmaprs80359422
1000 genomesrs80359422
hgdprs80359422
ensemblrs80359422
gopubmedrs80359422
geneviewrs80359422
scholarrs80359422
googlers80359422
pharmgkbrs80359422
gwascentralrs80359422
openSNPrs80359422
23andMers80359422
23andMe allrs80359422
SNP Nexus

SNPshotrs80359422
SNPdbers80359422
MSV3drs80359422
GWAS Ctlgrs80359422
Max Magnitude6
rs80359422, also known as 4276insC, c.4048_4049insC and p.His1350?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359422(C;C)
Alt rs80359422(C;C)
Reference rs80359422(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32912540dupC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113267.1,