RPS24 Q106X - 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:

RPS24 Q106X

(RPS24 Gln106Stop)


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)
  • OMIM: 602412
    ... 4 of the RPS24 gene, 316C-T, in affected individuals that gave rise to a substitution of a stop codon for gln106 (Q106X). Three members of the ...
    www.genome.jp/dbget-bin/www_bget?omim+602412

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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