The CLCN1 gene homepage

General information
Gene symbol CLCN1
Gene name chloride channel, voltage-sensitive 1
Chromosome 7
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_009815.2
Transcript reference NM_000083.2
Exon/intron information NM_000083.2 exon/intron table
Associated with diseases myotonia congenita, autosomal dominant (Thomsen disease), myotonia congenita, autosomal recessive (Becker disease)
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 2300
Unique public DNA variants reported 357
Individuals with public variants 764
Hidden variants 17
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. We gratefully acknowledge the work of Ieke Ginjaar (LUMC, Leiden) and Vincent Janmaat (LUMC, Leiden) submitting published variants to this gene variant database.
Date created June 06, 2007
Date last updated January 24, 2023
Version CLCN1:230124

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_000083.2.
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
HGNC 2019
Entrez Gene 1180
PubMed articles CLCN1
OMIM - Gene 118425
OMIM - Diseases myotonia congenita, autosomal dominant (Thomsen disease)
myotonia congenita, autosomal recessive (Becker disease)
GeneCards CLCN1
GeneTests CLCN1
Orphanet CLCN1

Active transcripts




NCBI ID     

NCBI Protein ID     

00005230 7 chloride channel 1, skeletal muscle NM_000083.2 NP_000074.2 2300

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.