CTNS Chromosome 17

Cystinosin, lysosomal cystine transporter

190 variants 190 Health Risk

Upload your DNA to see your personal genotypes for variants in CTNS.

What This Gene Does

This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

Gene Info

Gene Group

Solute carrier family 66

Locus Type

gene with protein product

Location

17p13.2

Ensembl

ENSG00000040531

Associated Conditions (12)

Ocular cystinosis

Nephropathic cystinosis

Juvenile nephropathic cystinosis

Inborn genetic diseases

Cystinosis

CTNS-related disorder

See cases

atypical nephropathic

Infantile nephropathic cystinosis

Gastric cancer

Renal tubulopathies

Nephrotic syndrome

Key Variants

RS111256750

Conflicting classifications of pathogenicity

Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis

Health Risk

RS1210146657

Conflicting classifications of pathogenicity

Ocular cystinosis, Nephropathic cystinosis, Inborn genetic diseases

Health Risk

RS121908128

Conflicting classifications of pathogenicity

Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis

Health Risk

RS138270433

Conflicting classifications of pathogenicity

Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis

Health Risk

RS142641674

Conflicting classifications of pathogenicity

Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis

Health Risk

RS144751390

Conflicting classifications of pathogenicity

Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis

Health Risk

RS146684402

Conflicting classifications of pathogenicity

Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis

Health Risk

RS147565118

Conflicting classifications of pathogenicity

Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis

Health Risk

RS148662747

Conflicting classifications of pathogenicity

Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis

Health Risk

RS187396540

Conflicting classifications of pathogenicity

Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases

Health Risk

RS199893334

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS199977728

Conflicting classifications of pathogenicity

Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis

Health Risk

All Variants (190)

RSID	Category	Clinical Significance	Conditions
RS1555563568	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS1555563658	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS1555564588	Health Risk	Likely pathogenic	Nephropathic cystinosis, Ocular cystinosis, Inborn genetic diseases
RS1555564600	Health Risk	Likely pathogenic	Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis
RS1555564823	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS1567709909	Health Risk	Likely pathogenic	Cystinosis, Cystinosis
RS2075906916	Health Risk	Likely pathogenic	Juvenile nephropathic cystinosis, Ocular cystinosis, Inborn genetic diseases
RS2076092608	Health Risk	Likely pathogenic	Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis
RS2076100543	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2076100759	Health Risk	Likely pathogenic	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis
RS2076151594	Health Risk	Likely pathogenic	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases
RS2076200436	Health Risk	Likely pathogenic	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis
RS2076245419	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2142982540	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2150922764	Health Risk	Likely pathogenic	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases
RS2150925336	Health Risk	Likely pathogenic	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis
RS2150925483	Health Risk	Likely pathogenic	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis
RS2507686855	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2507741403	Health Risk	Likely pathogenic	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases
RS2507741451	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2507760503	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2507760798	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2507761348	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2507762791	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2507762815	Health Risk	Likely pathogenic	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases
RS2507763369	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2507764701	Health Risk	Likely pathogenic	Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis
RS2507776613	Health Risk	Likely pathogenic	Ocular cystinosis, Ocular cystinosis
RS2507776875	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2507777392	Health Risk	Likely pathogenic	Cystinosis, Cystinosis
RS2507788947	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2507790386	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2507793584	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS2507793590	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS764168489	Health Risk	Likely pathogenic	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases
RS767289120	Health Risk	Likely pathogenic	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis
RS777367316	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS786204550	Health Risk	Likely pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS879255616	Health Risk	Likely pathogenic	Cystinosis, Nephropathic cystinosis, Cystinosis
RS113994205	Health Risk	Pathogenic	Nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis
RS113994208	Health Risk	Pathogenic	Nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis
RS113994209	Health Risk	Pathogenic	Nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis
RS113994210	Health Risk	Pathogenic	Ocular cystinosis, Ocular cystinosis
RS121908124	Health Risk	Pathogenic	Nephropathic cystinosis, Nephropathic cystinosis
RS121908127	Health Risk	Pathogenic	Nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis
RS121908129	Health Risk	Pathogenic	Cystinosis, atypical nephropathic, Cystinosis
RS1338364389	Health Risk	Pathogenic	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases
RS1390032475	Health Risk	Pathogenic	Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis
RS1407498555	Health Risk	Pathogenic	Nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis
RS1555558099	Health Risk	Pathogenic	Nephropathic cystinosis, Ocular cystinosis, Inborn genetic diseases

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