rs121434583
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.
|
11092761 |
2000 |
rs121434583
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
|
22170564 |
2012 |
rs121434583
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
|
18478038 |
2008 |
rs121434583
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
|
24767728 |
2014 |
rs774047299
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs121434582
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
|
24767728 |
2014 |
rs121434582
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
|
18478038 |
2008 |
rs121434582
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.
|
11092761 |
2000 |
rs121434582
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
|
22170564 |
2012 |
rs1555264243
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs2275272
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs537043237
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs762742204
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121434583
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs774047299
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1555262375
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587777858
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs863223315
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs863225045
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs864321670
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
|
26297558 |
2016 |
rs864321670
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
|
26026163 |
2015 |