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rs80358790

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358790(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340011
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358790
ebirs80358790
HLIrs80358790
Exacrs80358790
Varsomers80358790
Maprs80358790
PheGenIrs80358790
hapmaprs80358790
1000 genomesrs80358790
hgdprs80358790
ensemblrs80358790
gopubmedrs80358790
geneviewrs80358790
scholarrs80358790
googlers80358790
pharmgkbrs80358790
gwascentralrs80358790
openSNPrs80358790
23andMers80358790
23andMe allrs80358790
SNP Nexus

SNPshotrs80358790
SNPdbers80358790
MSV3drs80358790
GWAS Ctlgrs80358790
Max Magnitude6
rs80358790, also known as Q1886X, c.5656C>T and p.Gln1886Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358790(T;T)
Alt rs80358790(T;T)
Reference rs80358790(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.32914148C>T
CLNSRC ClinVar
CLNACC RCV000044710.3, RCV000113455.1,