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rs80358851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358851(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340479
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358851
ebirs80358851
HLIrs80358851
Exacrs80358851
Varsomers80358851
Maprs80358851
PheGenIrs80358851
hapmaprs80358851
1000 genomesrs80358851
hgdprs80358851
ensemblrs80358851
gopubmedrs80358851
geneviewrs80358851
scholarrs80358851
googlers80358851
pharmgkbrs80358851
gwascentralrs80358851
openSNPrs80358851
23andMers80358851
23andMe allrs80358851
SNP Nexus

SNPshotrs80358851
SNPdbers80358851
MSV3drs80358851
GWAS Ctlgrs80358851
Max Magnitude6
rs80358851, also known as Q2042X, c.6124C>T and p.Gln2042Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358851(T;T)
Alt rs80358851(T;T)
Reference rs80358851(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32914616C>T
CLNSRC ClinVar
CLNACC RCV000044850.5, RCV000077369.3, RCV000223048.1,