{{Rsnum
|rsid=113994205
|Chromosome=17
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CTNS
|position=3655305
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CTNS
}}{{omim
|id=606272
|rsnum=113994205
|variant=0003
}}{{ClinVar
|rsid=113994205
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=3558599
|CHROM=17
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=CTNS:1497
|GENE_NAME=CTNS
|GENE_ID=1497
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.3558599G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1400; 606272.0003
|CLNSIG=5
|CLNCUI=C0010690; C0010690; C0010690; C0010690
|CLNDBN=Cystinosis
|Disease=Cystinosis
|CLNACC=RCV000004693.2
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1400:C0010690:219800:213:190681003
}}{{PMID|9537412}} A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

{{PMID|10482956}} Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.