CHRND R443X - GET-Evidence

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

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(CHRND Arg443Stop)

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 with the alpha ... 0006 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE CHRND, PHE74LEU In a German family, Michalk ...
  • ARTICLE Acetylcholine Receptor Pathway Mutations Explain ...
    CHRND and show that they were lethal, whereas novel recessive ... R443X and missense mutation d.F74L. The mutations. in the d subunit reported here ...
  • Supplemental Data Acetylcholine Receptor Pathway Mutations ...
    R443X. CHRND exon 4. c.283T>C. F74L. CHRND exon 12. c.1390C>T. R443X. I-1 ... Compound heterozygous mutations in affected individuals from family CHRND-F2 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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