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rs121434369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 Unaffected carrier of a glutaric acidemia type I mutation
(T;T) 7 glutaric acidemia type I
ReferenceGRCh38 38.1/141
Chromosome19
Position12897824
GeneGCDH
is asnp
is mentioned by
dbSNPrs121434369
ebirs121434369
HLIrs121434369
Exacrs121434369
Varsomers121434369
Maprs121434369
PheGenIrs121434369
hapmaprs121434369
1000 genomesrs121434369
hgdprs121434369
ensemblrs121434369
gopubmedrs121434369
geneviewrs121434369
scholarrs121434369
googlers121434369
pharmgkbrs121434369
gwascentralrs121434369
openSNPrs121434369
23andMers121434369
23andMe allrs121434369
SNP Nexus

SNPshotrs121434369
SNPdbers121434369
MSV3drs121434369
GWAS Ctlgrs121434369
Max Magnitude7

rs121434369, also known as R402W or Arg402Trp, is a mutation in the glutaryl-CoA dehydrogenase GCDH gene on chromosome 19.

The rare rs121434369(T) allele is reported to be the most common GCDH mutation in Caucasians.[PMID 10699052OA-icon.png] Since glutaric acidemia I disease is caused by homozygous or compound heterozygous mutation in the GCDH gene, this SNP is predicted to be the most common mutation associated with glutaric acidemia I.

OMIM608801
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434369(T;T)
Alt rs121434369(T;T)
Reference rs121434369(C;C)
Significance Pathogenic
Disease Glutaric aciduria
Variation info
Gene GCDH
CLNDBN Glutaric aciduria, type 1
Reversed 0
HGVS NC_000019.9:g.13008638C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002166.2,