Hs04103495_cn

• Gene Symbol: CLCN5
• Assay Reference Genome Location: Chr.X:49938007 on build GRCh38
• Cytoband: Xp11.23

Target Gene Details

• Entrez Gene ID: 1184
• Gene Name: chloride voltage-gated channel 5
• Gene Aliases: CLC5, CLCK2, ClC-5, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2
• Location: Chr.X:49922615-50099235 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CLCN5	NM_001127898.3			NP_001121370.1
	NM_001127899.3			NP_001121371.1
	NM_001272102.1			NP_001259031.1
	XM_017029257.1			XP_016884746.1
	XM_017029258.1			XP_016884747.1
	AK056560.1
	AK092049.1
	BF513571.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv33289	Chr.X:49918651 - 49996249 on Build GRCh38	Loss	CLCN5
esv3573959	Chr.X:49935038 - 49940471 on Build GRCh38	Loss	CLCN5

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

transport
excretion
ion transmembrane transport
chloride transmembrane transport
regulation of anion transmembrane transport

Function(s)

voltage-gated chloride channel activity
chloride channel activity
ATP binding
antiporter activity
chloride ion binding