CHRND W57X - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(CHRND Trp57Stop)

Short summary


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


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • GeneTests records for the CHRND gene
    CHRND-Related Congenital Myasthenic Syndrome
    CHRND-Related Multiple Pterygium Syndrome, Lethal Type
    Congenital Myasthenic Syndromes
    Web search results (5 hits -- see all)
  • OMIM: 100720
    In addition, the mutant CHRND protein showed abnormal association ... CHRND gene that resulted in a trp57-to-ter amino acid substitution (W57X; W78X in the ...
  • ARTICLE Acetylcholine Receptor Pathway Mutations Explain ...
    CHRND and show that they were lethal, whereas novel recessive missense mutations in RAPSN ... family CHRND-F1 introduced a premature stop (d.W57X). Family CHRND-F2 is compound ...
  • Supplemental Data Acetylcholine Receptor Pathway Mutations ...
    W57X. V-2. CHRND exon 3. c.234G>A. W57X. CHRND exon 3. For comparison: ... Pedigree of consanguineous family CHRND-F1 with fetal akinesia and lethal multiple ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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