TWIST1 Q28X - 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 Q28X

(TWIST1 Gln28Stop)


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 (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. ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=scs
  • TWIST1 Gene - GeneCards | TWST1 Protein | TWST1 Antibody
    Complete information for TWIST1 gene (protein-coding), twist homolog 1 (Drosophila)
    www.genecards.org/cgi-bin/carddisp.pl?gene=TWIST1&pubmed=122
  • 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 ...
    www.genome.jp/dbget-bin/www_bget?omim+601622
  • 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 ...
    www.genome.jp/dbget-bin/www_bget?omim+101400

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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