LARGE gene homepage

NOTE: gene symbol was recently changed from LARGE to LARGE1. This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol LARGE
Gene name like-glycosyltransferase
Chromosome 22
Chromosomal band q12.3
Imprinted Not imprinted
Genomic reference NC_000022.10
Transcript reference NM_004737.4
Associated with diseases ID, MDDGA-6, MDDGB-5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 100
Unique public DNA variants reported 70
Individuals with public variants 55
Hidden variants 4
Download all this gene's data Download all data
Notes NOTE: gene symbol was recently changed from LARGE to LARGE1.
This database is one of the gene variant databases from the:
Date created December 01, 2007
Date last updated December 07, 2018
Version LARGE:181207

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 https://www.LOVD.nl/LARGE1
HGNC 6511
Entrez Gene 9215
PubMed articles LARGE
OMIM - Gene 603590
OMIM - Diseases MDDGA-6 (dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A6 (MDDGA-6))
MDDGB-5 (dystrophy, muscular, dystroglycanopathy (congenital with mental retardation), type B5 (MDDGB-5))
HGMD LARGE
GeneCards LARGE
GeneTests LARGE


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024074 22 transcript variant 1 NM_004737.4 NP_004728.1 100


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2007-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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.