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rs80359099

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359099(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32370555
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359099
ebirs80359099
HLIrs80359099
Exacrs80359099
Varsomers80359099
Maprs80359099
PheGenIrs80359099
hapmaprs80359099
1000 genomesrs80359099
hgdprs80359099
ensemblrs80359099
gopubmedrs80359099
geneviewrs80359099
scholarrs80359099
googlers80359099
pharmgkbrs80359099
gwascentralrs80359099
openSNPrs80359099
23andMers80359099
23andMe allrs80359099
SNP Nexus

SNPshotrs80359099
SNPdbers80359099
MSV3drs80359099
GWAS Ctlgrs80359099
Max Magnitude6
rs80359099, also known as Q2829X, c.8485C>T and p.Gln2829Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359099(T;T)
Alt rs80359099(T;T)
Reference rs80359099(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.32944692C>T
CLNSRC ClinVar
CLNACC RCV000045531.2, RCV000113942.1,