POMGNT1 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol POMGNT1
Gene name protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
Chromosome 1
Chromosomal band p34.1
Imprinted Not imprinted
Genomic reference NG_009205.2
Transcript reference NM_001243766.1, NM_017739.3
Exon/intron information NM_001243766.1 exon/intron table
Associated with diseases ID, LGMD-2O, MDDGA-3, MDDGB-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Johan den Dunnen and Rosário dos Santos
Total number of public variants reported 413
Unique public DNA variants reported 187
Individuals with public variants 244
Hidden variants 14
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:.
When refering to this database please cite Oliveira 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 October 11, 2019
Version POMGNT1:191011

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_001243766.1.
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 https://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     

00025256 1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), transcript variant 2 NM_001243766.1 NP_001230695.1 413
00025467 1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), transcript variant 1 NM_017739.3 NP_060209.3 133

Copyright & disclaimer
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