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 |
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 |
rs121434372
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
|
24973495 |
2014 |
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 |
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 |
rs121434372
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
|
18775954 |
2008 |
rs121434372
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
|
15505393 |
2004 |
rs121434372
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
|
15505393 |
2004 |
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 |
rs121434372
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
|
10960496 |
2000 |
rs121434372
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
|
10960496 |
2000 |
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 |
rs121434372
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.
|
9711871 |
1998 |
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 |
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 |
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 |
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 |
rs121434372
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
|
8900228 |
1996 |
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 |
rs121434372
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.
|
8541831 |
1995 |
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 |
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 |
rs121434369
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.
|
25762492 |
2015 |
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 |
rs121434367
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
|
24973495 |
2014 |