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NAGS c.972G>A ;(p.W324*)
Variant ID: 17-42083953-G-A
NM_153006.2(
NAGS
):c.972G>A;(p.W324*)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.
Jimd Reports
van de Logt, Anne-Els AE; Kluijtmans, Leo A J LA; Huigen, Marleen C D G MC; Janssen, Mirian C H MC
Publication Date: 2017
Variant appearance in text: NAGS: Trp324Ter
PubMed Link:
27147233
Variant Present in the following documents:
Main text
View BVdb publication page
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.
Scientifica
Chaturvedi, Swati S; Singh, Ashok K AK; Keshari, Amit K AK; Maity, Siddhartha S; Sarkar, Srimanta S; Saha, Sudipta S
Publication Date: 2016
Variant appearance in text: NAGS: Trp324Ter
PubMed Link:
27051561
Variant Present in the following documents:
Main text
SCIENTIFICA2016-9828672.pdf
View BVdb publication page
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.
The Application Of Clinical Genetics
Ah Mew, Nicholas N; Caldovic, Ljubica L
Publication Date: 2011
Variant appearance in text: NAGS: W324X
PubMed Link:
23776373
Variant Present in the following documents:
Main text
tacg-4-127.pdf
View BVdb publication page
Mammalian N-acetylglutamate synthase.
Molecular Genetics And Metabolism
Morizono, Hiroki H; Caldovic, Ljubica L; Shi, Dashuang D; Tuchman, Mendel M
Publication Date: 2004-04
Variant appearance in text: NAGS: Trp324Ter
PubMed Link:
15050968
Variant Present in the following documents:
Main text
View BVdb publication page