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rs80358999

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358999(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32357862
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358999
ebirs80358999
HLIrs80358999
Exacrs80358999
Varsomers80358999
Maprs80358999
PheGenIrs80358999
hapmaprs80358999
1000 genomesrs80358999
hgdprs80358999
ensemblrs80358999
gopubmedrs80358999
geneviewrs80358999
scholarrs80358999
googlers80358999
pharmgkbrs80358999
gwascentralrs80358999
openSNPrs80358999
23andMers80358999
23andMe allrs80358999
SNP Nexus

SNPshotrs80358999
SNPdbers80358999
MSV3drs80358999
GWAS Ctlgrs80358999
Max Magnitude6
rs80358999, also known as Q2580X, c.7738C>T and p.Gln2580Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358999(T;T)
Alt rs80358999(T;T)
Reference rs80358999(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.32931999C>T
CLNSRC ClinVar
CLNACC RCV000045297.2, RCV000113809.1,