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 135
Unique public DNA variants reported 103
Individuals with public variants 141
Hidden variants 10
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 February 26, 2024
Version CLCNKB:240226

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 (Bartter syndrome, type 3 (BARTS3))
BARTS4B (Bartter syndrome, 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_000076.2 135


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