WARNING: This database is no longer updated. Please visit LOVD3 shared for the current install.
||choroideremia (Rab escort protein 1)|
||david baux and Alina Radziwon|
|Database reference for citations
||View all (unique) PubMed references in the CHM database|
|Date of creation
||March 08, 2010|
||June 28, 2018|
|Add sequence variant
||Submit a sequence variant|
|First time submitters
|Reference sequence file
||Genomic reference sequence for describing sequence variants|
|Genomic refseq ID
|Transcript refseq ID
||Exon/intron information table|
|Total number of unique DNA variants reported
|Total number of individuals with variant(s)
|Total number of variants reported
|Subscribe to updates of this gene
WARNING: This database is no longer updated. Please visit LOVD3 shared for the current install.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:
|Search the database|
|By type of variant
||View all sequence variants of a certain type|
||Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)|
||Query the database by selecting a combination of variables|
|Based on patient origin
||View all variants based on your patient origin search terms|
|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.