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 NG_007159.3
Transcript reference NM_000084.2
Exon/intron information NM_000084.2 exon/intron table
Associated with diseases DENT-1, NPHL-2, XRN-1, 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 263
Unique public DNA variants reported 131
Individuals with public variants 255
Hidden variants 2
Date created March 06, 2009
Date last updated July 30, 2018
Version CLCN5:180730

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_000084.2.
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 http://www.LOVD.nl/CLCN5
External URL Orphanet
HGNC 2023
Entrez Gene 1184
PubMed articles CLCN5
OMIM - Gene 300008
OMIM - Diseases DENT-1 (Dent disease, type 1)
XRN-1 (nephrolithiasis, X-linked, with renal failure, type 1 (XRN-1))
proteinuria, hypercalciuria, nephrocalcinosis
rickets, hypophosphatemic, X-linked recessive
HGMD CLCN5
GeneCards CLCN5
GeneTests CLCN5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001353 X chloride channel 5, transcript variant 3 NM_000084.2 NP_000075.1 263


Copyright & disclaimer
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