CLCNKA |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CLCNKA (HGNC:2026) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- chloride voltage-gated channel Ka
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- hClC-Ka, ClC-K1, CLCK1
- %HI
- 75.9(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.12(Read more about gnomAD LOEUF score)
- Cytoband
- 1p36.13
- Genomic Coordinates
-
GRCh37/hg19: chr1:16348531-16360545 NCBI Ensembl UCSC GRCh38/hg38: chr1:16022036-16034050 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004070.4 ENST00000331433.5 (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. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-25695
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
05/17/2012
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Bartter disease type 4B Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)