TCOF1 R911X - 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:

TCOF1 R911X

(TCOF1 Arg911Stop)


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 (1 hit -- see all)
  • Pathogenic Mutations
    The TCS Collaborative Group, 1996. single. 58. Exon 10. deletion. g.17744_17772del. c. ... R911X. Horiuchi et al., 2004. single. 125. Exon 17. nt change - stop. g. ...
    www.genoma.ib.usp.br/TCOF1_database/mutation_pat.php

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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