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_009815.1
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 (2) Ieke Ginjaar and Vincent Janmaat
Total number of public variants reported 2066
Unique public DNA variants reported 292
Individuals with public variants 580
Hidden variants 2
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.
Date created June 06, 2007
Date last updated December 08, 2018
Version CLCN1:181208

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 http://www.LOVD.nl/CLCN1
External URL Orphanet
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)
HGMD CLCN1
GeneCards CLCN1
GeneTests CLCN1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005230 7 chloride channel 1, skeletal muscle NM_000083.2 NP_000074.2 2066


Copyright & disclaimer
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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.