TWIST1 E130X - GET-Evidence

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

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(TWIST1 Glu130Stop)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • None available.



Other external references

    Web search results (2 hits -- see all)
  • Mutations of the TWIST gene in the Saethre-Chotzen syndrome.
    Unité Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Institut ... mutations of the TWIST gene (S127X, E130X) in seven ACS III probands and ...
  • Interactive Fly, Drosophila
    Further, it was demonstrated that Twist1 and EphA4 interact genetically: EphA4 ... the failure of this process in Twist1 and EphA4 mutants is the cause ...

Other in silico analyses

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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