View PYGM gene homepage

General information
Gene symbol PYGM
Gene name phosphorylase, glycogen, muscle
Chromosome 11
Chromosomal band q12-q13.2
Imprinted Unknown
Genomic reference NG_013018.1
Transcript reference NM_005609.2
Exon/intron information NM_005609.2
Associated with diseases GSD-5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Irene Vieitez
Total number of public variants reported 170
Unique public DNA variants reported 153
Individuals with public variants 174
Hidden variants 0
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 June 07, 2016
Version PYGM:160607

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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/PYGM
External URL Orphanet
HGNC 9726
Entrez Gene 5837
PubMed articles PYGM
OMIM - Gene 608455
OMIM - Diseases GSD-5 (storage disease, glycogen, type V (GSD-5, McArdle disease))
HGMD PYGM
GeneCards PYGM
GeneTests PYGM


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024023 11 transcript variant 1 NM_005609.2 NP_005600.1 170


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