CTNS V42I - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!



(CTNS Val42Ile)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr17:3550800: 1.8% (197/10758) in EVS
  • A @ chr17:3497548: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.8% (197/10758)


Attard M, Jean G, Forestier L, Cherqui S, van't Hoff W, Broyer M, Antignac C, Town M. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. Hum Mol Genet. 1999 Dec;8(13):2507-14. PubMed PMID: 10556299.

OMIM describes this paper as mentioning this variant.

This paper is not available online, although other papers for the same issue are. The gap may represent a retraction; an inquiry has been sent by Madeleine Ball on 5/15/11.


GS18502 - var-GS18502-1100-36-ASM
het A @ chr17:3497549


GS18505 - var-GS18505-1100-36-ASM
het A @ chr17:3497549


GS19704 - var-GS19704-1100-36-ASM
het A @ chr17:3497549


Other external references

  • rs35086888

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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