The CLCNKB gene homepage

General information
Gene symbol CLCNKB
Gene name chloride channel, voltage-sensitive Kb
Chromosome 1
Chromosomal band p36
Imprinted Unknown
Genomic reference NG_013079.1
Transcript reference NM_000085.4
Exon/intron information NM_000085.4 exon/intron table
Associated with diseases BARTS3, BARTS4B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 106
Unique public DNA variants reported 82
Individuals with public variants 131
Hidden variants 11
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 May 03, 2013
Date last updated April 13, 2021
Version CLCNKB:210413

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_000085.4.
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 https://www.LOVD.nl/CLCNKB
HGNC 2027
Entrez Gene 1188
PubMed articles CLCNKB
OMIM - Gene 602023
OMIM - Diseases BARTS3 (syndrome, Bartter, type 3 (BARTS3))
BARTS4B (syndrome, Bartter, type 4B (BARTS4B))
HGMD CLCNKB
GeneCards CLCNKB
GeneTests CLCNKB
Orphanet CLCNKB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005238 1 transcript variant 1 NM_000085.4 NP_000076.2 106


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.