TWIST1 E130X - 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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Curation:
Currentness:

TWIST1 E130X

(TWIST1 Glu130Stop)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

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 ...
    www.ncbi.nlm.nih.gov/pubmed/8988167
  • 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 ...
    www.sdbonline.org/fly/torstoll/twist2b.htm

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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