TWIST1 Q28X - GET-Evidence

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

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(TWIST1 Gln28Stop)

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 (8 hits -- see all)
  • Saethre-Chotzen Syndrome -- GeneReviews -- NCBI Bookshelf
    TWIST1 mutations are identified in 46%-80% of affected individuals using a ... 1 of the TWIST1 gene detects all intragenic TWIST1 mutations identified to date. ...
  • TWIST1 Gene - GeneCards | TWST1 Protein | TWST1 Antibody
    Complete information for TWIST1 gene (protein-coding), twist homolog 1 (Drosophila)
  • OMIM: 601622
    Twist1 and Twist2 repressed cytokine gene expression through interaction with Rela. ... TWIST1, GLN28TER Dollfus et al. (2001) identified a gln28-to-ter (Q28X) mutation ...
  • OMIM: 101400
    Kress et al. (2006) identified mutations in the TWIST1 gene in 71 patients from 39 of 124 ... and further suggested that the TWIST1 gene may be a breast cancer ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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