PPT1 I134T - GET-Evidence

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

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PPT1 I134T

(PPT1 Ile134Thr)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:02pm by Genome Importing Robot.

Added in this revision:

Short summary


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


Insufficiently evaluated not reviewed

(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

  • G @ chr1:40557033: 3.4% (370/10758) in EVS
  • G @ chr1:40329619: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 3.4% (370/10758)



Other external references

  • GeneTests records for the PPT1 gene
    Neuronal Ceroid-Lipofuscinoses
    Neuronal Ceroid-Lipofuscinosis, Juvenile
    Neuronal Ceroid-Lipofuscinosis, Classic Late Infantile
    Neuronal Ceroid-Lipofuscinosis, Infantile
    PPT1-Related Neuronal Ceroid-Lipofuscinosis
  • Score: 0.001 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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