The CLCN4 gene homepage

General information
Gene symbol CLCN4
Gene name chloride channel, voltage-sensitive 4
Chromosome X
Chromosomal band p22.3
Imprinted Unknown
Genomic reference NG_012496.1
Transcript reference NM_001830.3
Exon/intron information NM_001830.3 exon/intron table
Associated with diseases -
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 56
Unique public DNA variants reported 50
Individuals with public variants 24
Hidden variants 3
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated September 17, 2021
Version CLCN4:210917

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_001830.3.
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/CLCN4
HGNC 2022
OMIM - Gene 302910
HGMD CLCN4
GeneCards CLCN4
Orphanet CLCN4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000298 X chloride channel 4 NM_001830.3 NP_001821.2 56


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