POMGNT1 gene homepage

General information
Gene symbol POMGNT1
Gene name protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
Chromosome 1
Chromosomal band p34.1
Imprinted Unknown
Genomic reference NG_009205.2
Transcript reference NM_017739.3
Associated with diseases ID, LGMD-2O, MDDGA-3, MDDGB-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Juha Muilu
Total number of public variants reported 56
Unique public DNA variants reported 55
Individuals with public variants 2
Hidden variants 4
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
When refering to this database please cite Oliveira J et al (2008). Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. J.Hum.Genet. 53: 565-567.
Date created August 01, 2006
Date last updated May 05, 2017
Version POMGNT1:170505

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/POMGNT1
External URL Orphanet
Finnish Disease Database (FinDis)
HGNC 19139
Entrez Gene 55624
PubMed articles POMGNT1
OMIM - Gene 606822
OMIM - Diseases LGMD-2O (MDDGC-3)
MDDGB-3 (dystrophy, muscular, dystroglycanopathy (congenital with mental retardation), type B3 (MDDGB-3))
GeneCards POMGNT1
GeneTests POMGNT1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000142 1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase, transcript variant 1 NM_017739.3 NP_060209.3 56

Copyright & disclaimer
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