TPO T725P - GET-Evidence

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

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(TPO Thr725Pro)

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

  • C @ chr2:1499927: 47.0% (5052/10758) in EVS
  • C @ chr2:1478933: 49.2% (61/124) in GET-Evidence
  • Frequency shown in summary reports: 47.0% (5052/10758)



Added in this revision:



Other external references

  • Score: 0 (benign)
    Web search results (3 hits -- see all)
  • High prevalence of thyroid peroxidase gene mutations in ...
    Mutational analysis of the TPO gene and part of its promoter consisted of single ... TPO gene mutations are also infrequently reported in patients with milder ...
  • Yildiz, A (Akin)
    Yildiz, A (Akin) :: The effects of solid food in prevention of intestinal activity in Tc ... five patients, seven different previously known TPO polymorphisms were detected: ...
  • High prevalence of thyroid peroxidase gene mutations in ...
    Thyroid peroxidase gene (TPO) mutations are one of the most common causes of ... results showed a higher prevalence of TPO gene mutations in thyroid ...

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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