LOVD CHM homepage

General information
Gene name choroideremia (Rab escort protein 1)
Gene symbol CHM
Chromosome Location Xq21.2
Database location grenada.lumc.nl
Curator david baux
Database reference for citations Pubmed search
PubMed references View all (unique) PubMed references in the CHM database
Date of creation March 08, 2010
Last update October 10, 2016
Version CHM161010
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_009874.1
Transcript refseq ID NM_000390.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 163
Total number of individuals with variant(s) 307
Total number of variants reported 307
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NOTE The compilation of human CHM mutations was initiated and performed by Lorenne ROBERT (INSERM U583, Institut des Neurosciences, Montpellier, France).

Please note that you can directly access the CHM database using the following URL:


Graphical displays and utilities
Summary tables Summary of all sequence variants in the CHM database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the CHM database, without patient data
Complete sequence variant listing Listing of all sequence variants in the CHM database
Variants with no known pathogenicity Listing of all CHM variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 1940
Entrez Gene 1121
OMIM - Gene 300390
OMIM - Disease Choroideremia
UniProtKB (SwissProt/TrEMBL) P24386
GeneCards CHM
GeneTests CHM
External link #1 Orphanet
External link #2 Association France-choroïdérémie
External link #3 KMeyeDB

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 © 2011. 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.

Right to access and correct
In accordance with the French law of the 6th January 1978, modified in 2004, you have the right to access and correct any personal data present in this website. Please contact the curator.
CNIL identification number 1653971.