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
|
|
A |
0.820 |
CausalMutation |
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 |
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
|
15505393 |
2004 |
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
|
|
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 |
rs121434367
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Genetics, medicine, and the Plain people.
|
19630565 |
2009 |
rs121434367
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.
|
1951469 |
1991 |
rs121434367
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
|
22728054 |
2012 |
rs121434367
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Mutation analysis in glutaric aciduria type I.
|
10699052 |
2000 |
rs121434367
|
|
T |
0.810 |
CausalMutation |
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 |
rs121434367
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
|
17478444 |
2007 |
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 |
rs121434367
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
|
18926513 |
2008 |
rs121434368
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs121434369
|
|
T |
0.810 |
CausalMutation |
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 |
rs121434369
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
|
10960496 |
2000 |
rs121434369
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
|
24973495 |
2014 |
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 |
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 |
We report here for the first time on expression studies of four missense mutations c.412A > G (p.Arg138Gly), c.787A > G (p.Met263Val), c.1204C > T (p.Arg402Trp) and c.1240G > A (p.Glu414Lys) identified in GA1 patients in mammalian cells.
|
18775954 |
2008 |
rs121434369
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
|
11073722 |
2000 |
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 |
rs121434369
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.
|
10649503 |
2000 |
rs121434369
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin.
|
10699052 |
2000 |
rs121434369
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
|
9600243 |
1998 |