TPO T725P - GET-Evidence

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

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Curation:
Currentness:

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TPO T725P

(TPO Thr725Pro)


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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

  • 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)

Publications
 

Genomes
 

Added in this revision:

NA18517

 

snp-2

 

Other external references
 

    PolyPhen-2
  • 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 ...
    www.eje-online.org/cgi/content/full/156/5/511
  • 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: ...
    lib.bioinfo.pl/auid:1994602
  • 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 ...
    www.eje-online.org/cgi/reprint/156/5/511.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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