rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.
|
8541831 |
1995 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
|
0.810 |
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 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
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
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
T |
0.810 |
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 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Glutaric aciduria type I in the Arab and Jewish communities in Israel.
|
8900228 |
1996 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
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 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
|
9600243 |
1998 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
T |
0.810 |
GeneticVariation |
CLINVAR |
The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin.
|
10699052 |
2000 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
T |
0.810 |
CausalMutation |
CLINVAR |
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
|
10960496 |
2000 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
T |
0.810 |
CausalMutation |
CLINVAR |
Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
|
11073722 |
2000 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
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
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
|
0.810 |
GeneticVariation |
BEFREE |
The commonest GA1 mutation in Europeans is R402W, which accounts for almost 40% of alleles in patients of German origin.
|
10699052 |
2000 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
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
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
|
0.810 |
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 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
T |
0.810 |
GeneticVariation |
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
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
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
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
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
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
|
0.810 |
GeneticVariation |
UNIPROT |
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
|
24973495 |
2014 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
T |
0.810 |
CausalMutation |
CLINVAR |
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
|
24973495 |
2014 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.
|
24973495 |
2014 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
T |
0.810 |
CausalMutation |
CLINVAR |
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.
|
25762492 |
2015 |
rs121434369
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
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
|
GCDH;SYCE2
|
Glutaric aciduria, type 1
|
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 |