TTF1 R401Q - GET-Evidence

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

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TTF1 R401Q

(TTF1 Arg401Gln)

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 @ chr9:135277007: 5.0% (541/10758) in EVS
  • T @ chr9:134266827: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 5.0% (541/10758)





Added in this revision:



Other external references

  • GeneTests records for the TTF1 gene
    Benign Hereditary Chorea
    Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distre
  • Score: 0.074 (benign)
    Web search results (4 hits -- see all)
  • Type III 98%
    ... kinase family Removed kinase gruop Effect Reference(s) for variant Reference(s) for phosphorylation site ... somatic mutation 16959974 TTF1 Q15361 R401Q 403 VAR_027567 PKA (0. ...
  • Type III 95%
    TTF1 Q15361 R401Q 403 VAR_027567 STE20 (0.842) PKA (0.945) CK2 (0.818) PKC (0.800) CAMK2 (0.899) IKK (0.798) RSK (0.787) STE20 (0.842) PKA (0. ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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