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rs80358936

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358936(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32354913
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358936
ebirs80358936
HLIrs80358936
Exacrs80358936
Varsomers80358936
Maprs80358936
PheGenIrs80358936
hapmaprs80358936
1000 genomesrs80358936
hgdprs80358936
ensemblrs80358936
gopubmedrs80358936
geneviewrs80358936
scholarrs80358936
googlers80358936
pharmgkbrs80358936
gwascentralrs80358936
openSNPrs80358936
23andMers80358936
23andMe allrs80358936
SNP Nexus

SNPshotrs80358936
SNPdbers80358936
MSV3drs80358936
GWAS Ctlgrs80358936
Max Magnitude6
rs80358936, also known as Q2354X, c.7060C>T and p.Gln2354Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358936(T;T)
Alt rs80358936(T;T)
Reference rs80358936(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32929050C>T
CLNSRC ClinVar
CLNACC RCV000045134.2, RCV000113702.1,