The CLCN5 gene homepage

General information
Gene symbol CLCN5
Gene name chloride channel, voltage-sensitive 5
Chromosome X
Chromosomal band p11.23-p11.22
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_001127898.3
Associated with diseases DENT1, HR, NPHL, XRN, proteinuria, hypercalciuria, nephrocalcinosis, rickets, hypophosphatemic, X-linked recessive
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Rosa Vargas-Poussou
Total number of public variants reported 324
Unique public DNA variants reported 178
Individuals with public variants 455
Hidden variants 4
Download all this gene's data Download all data
Notes change to MANE NM_001127898.3
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created March 06, 2009
Date last updated July 07, 2023
Version CLCN5:230707

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 2023
Entrez Gene 1184
PubMed articles CLCN5
OMIM - Gene 300008
OMIM - Diseases DENT1 (Dent disease, type 1)
XRN (nephrolithiasis, Xlinked, with renal failure, type 1 (XRN1))
proteinuria, hypercalciuria, nephrocalcinosis
rickets, hypophosphatemic, X-linked recessive
GeneCards CLCN5
GeneTests CLCN5
Orphanet CLCN5

Active transcripts




NCBI ID     

NCBI Protein ID     

00025670 X chloride voltage-gated channel 5, transcript variant 2 NM_001127898.3 NP_001121370.1 324

Copyright & disclaimer
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