• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CLCNKB (HGNC:2027) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
chloride voltage-gated channel Kb
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
hClC-Kb, CLCKB, ClC-K2, ClC-Kb
%HI
71.85(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.24(Read more about gnomAD LOEUF score)
Cytoband
1p36.13
Genomic Coordinates
GRCh37/hg19: chr1:16370277-16383821 NCBI Ensembl UCSC
GRCh38/hg38: chr1:16043782-16057326 NCBI Ensembl UCSC
MANE Select Transcript
NM_000085.5 ENST00000375679.9 (Read more about MANE Select)
Function
Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms. {ECO:0000269|PubMed:11734858}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2046
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
11/17/2011

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
At the time of this review (11/16/2011), rare duplications were found in general population controls (curated in Database of Genomic Variants); no publications describing pathogenic duplications were found.

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)