GJB2 Q124X - 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:

GJB2 Q124X

(GJB2 Gln124Stop)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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
 

    GeneTests
  • GeneTests records for the GJB2 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    DFNA 3 Nonsyndromic Hearing Loss and Deafness
    DFNB 1 Nonsyndromic Hearing Loss and Deafness
    GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness
    GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness
    Ichthyosis, Hystrix-like, with Deafness
    Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
    Vohwinkel Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJB2

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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