RPE65 A132T - GET-Evidence

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

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Curation:
Currentness:

RPE65 A132T

(RPE65 Ala132Thr)


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

  • T @ chr1:68910315: 0.1% (11/10758) in EVS
  • Frequency shown in summary reports: 0.1% (11/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the RPE65 gene
    Leber Congenital Amaurosis
    Retinitis Pigmentosa, Autosomal Recessive
    RPE65-Related Leber Congenital Amaurosis
    RPE65-Related Retinitis Pigmentosa
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPE65
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (8 hits -- see all)
  • Genetics and Phenotypes of RPE65 Mutations in Inherited ...
    To characterize the spectrum of RPE65 mutations present in 453 patients with retinal ... The 14 exons of RPE65 were ampliļ¬ed by polymerase chain reaction (PCR) from ...
    www.iovs.org/cgi/reprint/41/13/4293.pdf
  • Genetics and Phenotypes of RPE65 Mutations in Inherited ...
    The 14 exons of RPE65 were amplified by polymerase chain reaction (PCR) from patients' ... for the mutations M1T and A132T identified in homozygous form by ...
    www.iovs.org/cgi/content/full/41/13/4293
  • Complete report
    RPE65 A434V/hom. 13. USH2A V5145I/het. RGR S241F/het. USH2A V230M/het. PDE6A V391M/het. USH2A ... A132T. G/C. G/C. G/C. G/C. G/C. G/C. G/C. G/C. G/C. G/C. 330. RPE65. 5. 407 T>G ...
    www.asperbio.com/uploads/files/Report_sample_complete.xls
  • Gendia | Microarray Testing
    gendia is an international network consisting of more than 100 laboratories. Gendia currently offers close to 2000 genetic tests.
    www.gendia.net/t18_note4.html

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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