CLCNKB |
- 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:
- Bartter disease type 3 Monarch
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)