TWIST1 Q119P - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

TWIST1 Q119P

(TWIST1 Gln119Pro)


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
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (1 hit -- see all)
  • OMIM: 601622
    Twist1 and Twist2 were expressed in Runx2-expressing cells throughout the ... Double heterozygotes for Twist1 and Runx2 deletion showed none of the skull ...
    www.genome.jp/dbget-bin/www_bget?omim+601622

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in