LOVD CLCN5 homepage

General information
Gene name chloride channel 5
Gene symbol CLCN5
Chromosome Location Xp11.23
Database location www.LOVD.nl/MR
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the CLCN5 database
Date of creation March 06, 2009
Last update January 27, 2014
Version CLCN5 140127
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_007159.3
Transcript refseq ID NM_001127899.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 2
Total number of individuals with variant(s) 2
Total number of variants reported 2
Subscribe to updates of this gene
NOTE The gene sequence variant databases (LSDBs) at these pages have been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. For reasons of privacy, only summary data from this paper are present in the databases.
Detailed haplotypes are available to researchers upon request, after signing a transfer agreement; contact Lucy Raymond (flr24 @ cam.ac.uk).

Although we have initiated these databases, they are too many to be regularly updated and curated by us. We depend on the help of active volunteers to cope with this enormous task; a complete database is most helpful for users, especially for those using it trying to decide "is the variant found pathogenic or not". Do you perform sequence variant screening for any of these genes, please register and help to keep the databases up-to-date by submitting your findings (published and unpublished). Are you an expert for one of these genes or are you willing to help us, consider to become a curator (mail to; ddunnen @ HumGen.nl).

In the coming months we will try to update the databases by adding data retrieved from other public repositories (dbSNP, OMIM, literature, etc.).
In addition we will contact people that may have already established LSDBs for any of these genes and suggest joining efforts - we have no intention to duplicate work. Furthermore, we will invite researchers that we consider as potential curators - when you receive such a request, please give a positive reply!

The work leading to the establishment of these LSDBs was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the CLCN5 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 CLCN5 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the CLCN5 database
Variants with no known pathogenicity Listing of all CLCN5 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
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 2023
Entrez Gene 1184
OMIM - Gene 300008
HGMD CLCN5
GeneCards CLCN5
GeneTests CLCN5
External link Orphanet

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 © 2014. 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.