TEP1 G1408R - 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.

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TEP1 G1408R

(TEP1 Gly1408Arg)

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 -


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

  • T @ chr14:20850434: 1.5% (158/10758) in EVS
  • Frequency shown in summary reports: 1.5% (158/10758)



Added in this revision:



Other external references

  • GeneTests records for the TEP1 gene
    Bannayan-Riley-Ruvalcaba Syndrome
    Cowden Syndrome
    Macrocephaly/Autism Syndrome
    PTEN Hamartoma Tumor Syndrome (PHTS)
    VACTERL Association with Hydrocephalus
    Web search results (1 hit -- see all)
  • Type III 98%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Effect Reference(s) for variant Reference(s) for phosphorylation site ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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