PPT1 I134T - 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:

(See the latest version)

PPT1 I134T

(PPT1 Ile134Thr)


You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • 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)

Publications
 

Genomes
 

Added in this revision:

NA18555

 

snp-1

 

snp-2

 

Other external references
 

    GeneTests
  • 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
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PPT1
    PolyPhen-2
  • 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":

Log in