The 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
Exon/intron information NM_004737.4 exon/intron table
Associated with diseases ID, MDDGA6, MDDGB6
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 130
Unique public DNA variants reported 86
Individuals with public variants 185
Hidden variants 7
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 January 11, 2023
Version LARGE:230111

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_004737.4.
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
HGNC 6511
Entrez Gene 9215
PubMed articles LARGE
OMIM - Gene 603590
OMIM - Diseases MDDGA6 (dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A6 (MDDGA-6))
MDDGB6 (dystrophy, muscular, dystroglycanopathy (congenital with mental retardation), type B6)
GeneCards LARGE
GeneTests LARGE
Orphanet LARGE

Active transcripts




NCBI ID     

NCBI Protein ID     

00024074 22 transcript variant 1 NM_004737.4 NP_004728.1 130

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2007-2023. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.