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!

Curation:
Currentness:

CTNS V42I

(CTNS Val42Ile)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

unknown

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)

Publications
 

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.

Genomes
 

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
 

    dbSNP
  • rs35086888
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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