CHRND F74L - GET-Evidence

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

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(CHRND Phe74Leu)

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)
  • ARTICLE Acetylcholine Receptor Pathway Mutations Explain ...
    CHRND and show that they were lethal, whereas novel recessive missense mutations ... tion d.F74L. Residue d.F74L is conserved among mammals. Figure 5. B) ...
  • 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 ...
  • Supplemental Data Acetylcholine Receptor Pathway Mutations ...
    F74L. CHRND exon 12. c.1390C>T. R443X. CHRND exon 4. c.283T>C. F74L. CHRND exon 12. c.1390C>T ... Pedigree of family CHRND-F2 with multiple individuals affected by ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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