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rs80358844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358844(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340425
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358844
ebirs80358844
HLIrs80358844
Exacrs80358844
Varsomers80358844
Maprs80358844
PheGenIrs80358844
hapmaprs80358844
1000 genomesrs80358844
hgdprs80358844
ensemblrs80358844
gopubmedrs80358844
geneviewrs80358844
scholarrs80358844
googlers80358844
pharmgkbrs80358844
gwascentralrs80358844
openSNPrs80358844
23andMers80358844
23andMe allrs80358844
SNP Nexus

SNPshotrs80358844
SNPdbers80358844
MSV3drs80358844
GWAS Ctlgrs80358844
Max Magnitude6
rs80358844, also known as Q2024X, c.6070C>T and p.Gln2024Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358844(T;T)
Alt rs80358844(T;T)
Reference rs80358844(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.32914562C>T
CLNSRC ClinVar
CLNACC RCV000044832.2, RCV000113524.1, RCV000162929.1,