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	https://www.LOVD.nl/CLCN5
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
HGMD	CLCN5
GeneCards	CLCN5
GeneTests	CLCN5
Orphanet	CLCN5

Active transcripts

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00025670	X	chloride voltage-gated channel 5, transcript variant 2	NM_001127898.3	NP_001121370.1	324

Copyright & disclaimer
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Global Variome shared LOVD

CLCN5 (chloride channel, voltage-sensitive 5)