rs35086888

This is a variant in the CTNS gene that changes a valine to an isoleucine.

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ClinVar annotation

Pathogenic★★★☆
14 submitters6 publications

CTNS-related disorder; Cystinosis; Cystinosis, atypical nephropathic; Inborn genetic diseases; Juvenile nephropathic cystinosis; Nephropathic cystinosis (CTNS); Ocular cystinosis; not specified

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About CTNS

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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