rs104894605
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
0.800
GeneticVariation
UNIPROT
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
27037498
2016
rs104894606
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
0.800
GeneticVariation
UNIPROT
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
27037498
2016
rs104894605
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
0.800
GeneticVariation
UNIPROT
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.
15878741
2005
rs104894606
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
0.800
GeneticVariation
UNIPROT
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.
15878741
2005
rs104894605
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
0.800
GeneticVariation
UNIPROT
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
12754705
2003
rs104894606
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
0.800
GeneticVariation
UNIPROT
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
12754705
2003
rs104894605
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
C
0.800
CausalMutation
CLINVAR
rs104894606
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
C
0.800
CausalMutation
CLINVAR
rs1188223411
×
Entrez Id:
5697;162417
Gene Symbol:
PYY;NAGS
PYY;NAGS
Hyperammonemia, type III
0.710
GeneticVariation
BEFREE
In this study, another three families affected by NAGSD were analyzed for NAGS gene mutations resulting in the identification of three novel missense mutations (C200R [c.598T > C], S410P [c.1228T > C], A518T [c.1552G > A]).
15878741
2005
rs1188223411
×
Entrez Id:
5697;162417
Gene Symbol:
PYY;NAGS
PYY;NAGS
Hyperammonemia, type III
0.710
GeneticVariation
UNIPROT
rs1204011876
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
0.700
GeneticVariation
UNIPROT
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
27037498
2016
rs760267963
×
Entrez Id:
5697;162417
Gene Symbol:
PYY;NAGS
PYY;NAGS
Hyperammonemia, type III
0.700
GeneticVariation
UNIPROT
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
27037498
2016
rs1204011876
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
0.700
GeneticVariation
UNIPROT
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.
15878741
2005
rs760267963
×
Entrez Id:
5697;162417
Gene Symbol:
PYY;NAGS
PYY;NAGS
Hyperammonemia, type III
0.700
GeneticVariation
UNIPROT
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.
15878741
2005
rs1204011876
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
0.700
GeneticVariation
UNIPROT
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
12754705
2003
rs202041339
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
C
0.700
GeneticVariation
CLINVAR
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
12594532
2003
rs760267963
×
Entrez Id:
5697;162417
Gene Symbol:
PYY;NAGS
PYY;NAGS
Hyperammonemia, type III
0.700
GeneticVariation
UNIPROT
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
12754705
2003
rs104894604
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
A
0.700
CausalMutation
CLINVAR
rs104894607
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
C
0.700
CausalMutation
CLINVAR
rs121912591
×
Entrez Id:
5697;162417
Gene Symbol:
PYY;NAGS
PYY;NAGS
Hyperammonemia, type III
A
0.700
CausalMutation
CLINVAR
rs1251891037
×
Entrez Id:
5697;162417
Gene Symbol:
PYY;NAGS
PYY;NAGS
Hyperammonemia, type III
0.700
GeneticVariation
UNIPROT
rs1312599995
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
0.700
GeneticVariation
UNIPROT
rs1567941557
×
Entrez Id:
5697;162417
Gene Symbol:
PYY;NAGS
PYY;NAGS
Hyperammonemia, type III
CAGATCGGAAGA
0.700
GeneticVariation
CLINVAR
rs730880266
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
C
0.700
CausalMutation
CLINVAR
rs730880267
×
Entrez Id:
162417
Gene Symbol:
NAGS
NAGS
Hyperammonemia, type III
T
0.700
CausalMutation
CLINVAR