The AGL gene homepage

General information
Gene symbol AGL
Gene name amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Chromosome 1
Chromosomal band p21
Imprinted Unknown
Genomic reference NG_012865.1
Transcript reference NM_000642.2
Exon/intron information NM_000642.2 exon/intron table
Associated with diseases GSD3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 121
Unique public DNA variants reported 86
Individuals with public variants 146
Hidden variants 7
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated November 17, 2023
Version AGL:231117

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_000642.2.
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/AGL
HGNC 321
Entrez Gene 178
PubMed articles AGL
OMIM - Gene 610860
OMIM - Diseases GSD3 (storage disease, glycogen, type III (GSD-3))
HGMD AGL
GeneCards AGL
GeneTests AGL
Orphanet AGL


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024135 1 transcript variant 1 NM_000642.2 NP_000633.2 121


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