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rs80358831

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358831(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340335
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358831
ebirs80358831
HLIrs80358831
Exacrs80358831
Varsomers80358831
Maprs80358831
PheGenIrs80358831
hapmaprs80358831
1000 genomesrs80358831
hgdprs80358831
ensemblrs80358831
gopubmedrs80358831
geneviewrs80358831
scholarrs80358831
googlers80358831
pharmgkbrs80358831
gwascentralrs80358831
openSNPrs80358831
23andMers80358831
23andMe allrs80358831
SNP Nexus

SNPshotrs80358831
SNPdbers80358831
MSV3drs80358831
GWAS Ctlgrs80358831
Max Magnitude6
rs80358831, also known as Q1994X, c.5980C>T and p.Gln1994Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358831(T;T)
Alt rs80358831(T;T)
Reference Rs80358831(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32914472C>T
CLNSRC ClinVar
CLNACC RCV000031592.6, RCV000044810.3,