The CHM gene homepage

This database is one of the ”Retinal and hearing impairment genetic variant databases”.
General information
Gene symbol CHM
Gene name choroideremia (Rab escort protein 1)
Chromosome X
Chromosomal band q21.1-q21.3
Imprinted Unknown
Genomic reference LRG_699
Transcript reference NM_000390.2
Exon/intron information NM_000390.2 exon/intron table
Associated with diseases CHM
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) David Baux and Alina Radziwon
Total number of public variants reported 1054
Unique public DNA variants reported 538
Individuals with public variants 1097
Hidden variants 148
Download all this gene's data Download all data
Notes The database is curated by the Montpellier Usher group.
You can directly access the CHM database using:
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 08, 2010
Date last updated November 27, 2023
Version CHM:231127

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_000390.2.
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
External URL KMeyeDB
eyeGENE database
HGNC 1940
Entrez Gene 1121
PubMed articles CHM
OMIM - Gene 300390
OMIM - Diseases CHM (choroideremia (CHM))
GeneCards CHM
GeneTests CHM
Orphanet CHM

Active transcripts




NCBI ID     

NCBI Protein ID     

00000927 X transcript variant 1 NM_000390.2 NP_000381.1 1054

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 © 2010-2023. 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.