Have questions? Visit https://www.reddit.com/r/SNPedia

rs80358659

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358659(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338466
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358659
ebirs80358659
HLIrs80358659
Exacrs80358659
Varsomers80358659
Maprs80358659
PheGenIrs80358659
hapmaprs80358659
1000 genomesrs80358659
hgdprs80358659
ensemblrs80358659
gopubmedrs80358659
geneviewrs80358659
scholarrs80358659
googlers80358659
pharmgkbrs80358659
gwascentralrs80358659
openSNPrs80358659
23andMers80358659
23andMe allrs80358659
SNP Nexus

SNPshotrs80358659
SNPdbers80358659
MSV3drs80358659
GWAS Ctlgrs80358659
Max Magnitude6
rs80358659, also known as Q1371X, c.4111C>T and p.Gln1371Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358659(T;T)
Alt rs80358659(T;T)
Reference rs80358659(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32912603C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044353.2, RCV000077320.3, RCV000131073.2,