Gene entry
CLCN5
Cl-/H+ antiporter 5
- Chromosome
- X
- Cytoband
- Xp11.23
- Variants (rsID)
- 27
CLCN5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp11.23). Its official name is “Cl-/H+ antiporter 5”. The reference table lists 27 variants (rsID) for this gene.
Clinically classified variants
20 reference-table entries with clinical significance.
- rs140913229Benignsingle nucleotide variantDent disease
- rs151340621Pathogenicsingle nucleotide variantDent disease type 1
- rs151340622Pathogenicsingle nucleotide variantDent disease type 1
- rs151340623Pathogenicsingle nucleotide variantDent disease type 1
- rs151340625Pathogenicsingle nucleotide variantNephrolithiasis, X-linked recessive|Dent disease type 1
- rs151340626Pathogenicsingle nucleotide variantHypophosphatemic rickets, X-linked recessive|Dent disease type 1
- rs151340627Pathogenicsingle nucleotide variantProteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
- rs151340628Pathogenicsingle nucleotide variantProteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
- rs151340629Pathogenicsingle nucleotide variantNephrolithiasis, X-linked recessive
- rs151340630Pathogenicsingle nucleotide variantDent disease type 1
- rs797044810Pathogenicsingle nucleotide variantDent disease type 1
- rs797044813Pathogenicsingle nucleotide variantDent disease type 1|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
- rs151340624Uncertain significancesingle nucleotide variantNephrolithiasis, X-linked recessive|X-linked recessive nephrolithiasis with renal failure
- rs273585644Not classifiedsingle nucleotide variantDent disease type 1
- rs273585645Not classifiedsingle nucleotide variantDent disease type 1
- rs273585646Not classifiedsingle nucleotide variantDent disease type 1
- rs273585647Not classifiedsingle nucleotide variantDent disease type 1
- rs273585648Not classifiedsingle nucleotide variantDent disease type 1
- rs273585649Not classifiedsingle nucleotide variantDent disease type 1
- rs273585650Not classifiedsingle nucleotide variantDent disease type 1
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.