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rs80359115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359115(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32371043
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359115
ebirs80359115
HLIrs80359115
Exacrs80359115
Varsomers80359115
Maprs80359115
PheGenIrs80359115
hapmaprs80359115
1000 genomesrs80359115
hgdprs80359115
ensemblrs80359115
gopubmedrs80359115
geneviewrs80359115
scholarrs80359115
googlers80359115
pharmgkbrs80359115
gwascentralrs80359115
openSNPrs80359115
23andMers80359115
23andMe allrs80359115
SNP Nexus

SNPshotrs80359115
SNPdbers80359115
MSV3drs80359115
GWAS Ctlgrs80359115
Max Magnitude6
rs80359115, also known as Q2859X, c.8575C>T and p.Gln2859Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359115(T;T)
Alt rs80359115(T;T)
Reference rs80359115(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32945180C>T
CLNSRC ClinVar
CLNACC RCV000045563.3, RCV000113964.1,