NAGS gene homepage

General information
Gene symbol NAGS
Gene name N-acetylglutamate synthase
Chromosome 17
Chromosomal band q21.31
Imprinted Unknown
Genomic reference NG_008106.1
Transcript reference NM_153006.2
Exon/intron information NM_153006.2 exon/intron table
Associated with diseases NAGSD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 49
Unique public DNA variants reported 27
Individuals with public variants 26
Hidden variants 28
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 29, 2009
Date last updated July 23, 2017
Version NAGS:170723

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_153006.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/NAGS
External URL Orphanet
HGNC 17996
Entrez Gene 162417
PubMed articles NAGS
OMIM - Gene 608300
OMIM - Diseases NAGSD (deficiency, N-acetylglutamate synthase (NAGSD))
HGMD NAGS
GeneCards NAGS
GeneTests NAGS


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014262 17 N-acetylglutamate synthase NM_153006.2 NP_694551.1 49


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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.