{{Rsnum
|rsid=161400
|Gene=CTNS
|Chromosome=17
|position=3658102
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.1598
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CTNS
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.0 | 1.5 | 98.5
| HCB | 0.0 | 13.3 | 86.7
| JPT | 0.0 | 11.4 | 88.6
| YRI | 30.6 | 41.9 | 27.4
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 13.3 | 86.7
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=161400
|allele=T
|frequency=0.992
|uid=1103645264168
|type=homozygous_SNP
|hugo=CTNS
|ensembl gene=ENSG00000040531
|ensembl transcript=ENST00000046640
|sift=TOLERATED
|disease=Defects in CTNS are the cause of cystinosis (MIM:219800, 219900, 219750). This autosomal recessive disorder results from defective lysosomal transport of cystine. The classical nephropathic form is characterized by renal failure at 10 years of age and other systemic complications. Milder phenotype exist such as intermediate cystinosis, with later onset of renal disease and benign or nonnephropathic cystinosis, with symptoms related only to corneal crystals and photophobia.
}}

{{GET Evidence
|gene=CTNS
|aa_change=Thr260Ile
|aa_change_short=T260I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs161400
|overall_frequency_n=8913
|overall_frequency_d=10758
|overall_frequency=0.8285
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=92
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=3
|n_web_uneval=2
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}