Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434372
rs121434372
A 0.820 CausalMutation CLINVAR We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population. 27397597

2016

dbSNP: rs121434372
rs121434372
0.820 GeneticVariation BEFREE We report the allele frequencies for three known GA-I LE GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population. 27397597

2016

dbSNP: rs121434372
rs121434372
0.820 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014

dbSNP: rs121434372
rs121434372
A 0.820 GeneticVariation CLINVAR Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. 21912879

2012

dbSNP: rs121434372
rs121434372
A 0.820 CausalMutation CLINVAR Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. 21912879

2012

dbSNP: rs121434372
rs121434372
0.820 GeneticVariation UNIPROT Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). 18775954

2008

dbSNP: rs121434372
rs121434372
A 0.820 CausalMutation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004

dbSNP: rs121434372
rs121434372
A 0.820 GeneticVariation CLINVAR Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. 15505393

2004

dbSNP: rs121434372
rs121434372
0.820 GeneticVariation UNIPROT Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. 14707522

2003

dbSNP: rs121434372
rs121434372
A 0.820 GeneticVariation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000

dbSNP: rs121434372
rs121434372
A 0.820 CausalMutation CLINVAR Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. 10960496

2000

dbSNP: rs121434372
rs121434372
0.820 GeneticVariation BEFREE Both siblings have high residual glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for two mutations - R227P and V400M reported to be disease-causing in patients with glutaric aciduria type I. 9881681

1998

dbSNP: rs121434372
rs121434372
A 0.820 GeneticVariation CLINVAR Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. 9711871

1998

dbSNP: rs121434372
rs121434372
0.820 GeneticVariation UNIPROT The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. 9600243

1998

dbSNP: rs121434372
rs121434372
A 0.820 GeneticVariation CLINVAR Both siblings have high residual glutaryl-CoA dehydrogenase activity, and are compound heterozygotes for two mutations - R227P and V400M reported to be disease-causing in patients with glutaric aciduria type I. 9881681

1998

dbSNP: rs121434372
rs121434372
A 0.820 CausalMutation CLINVAR Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion. 9266361

1997

dbSNP: rs121434372
rs121434372
0.820 GeneticVariation UNIPROT Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. 8900227

1996

dbSNP: rs121434372
rs121434372
0.820 GeneticVariation UNIPROT Glutaric aciduria type I in the Arab and Jewish communities in Israel. 8900228

1996

dbSNP: rs121434372
rs121434372
A 0.820 GeneticVariation CLINVAR Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. 8900227

1996

dbSNP: rs121434372
rs121434372
0.820 GeneticVariation UNIPROT Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8541831

1995

dbSNP: rs121434367
rs121434367
T 0.810 CausalMutation CLINVAR Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. 28438223

2017

dbSNP: rs121434369
rs121434369
T 0.810 CausalMutation CLINVAR We conclude that among selected mutations, R402W is the most common mutation found among Indian GA-I patients. 28794906

2017

dbSNP: rs121434369
rs121434369
T 0.810 CausalMutation CLINVAR Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. 25762492

2015

dbSNP: rs121434369
rs121434369
T 0.810 CausalMutation CLINVAR Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. 25256449

2015

dbSNP: rs121434367
rs121434367
0.810 GeneticVariation UNIPROT Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. 24973495

2014