CHRND F74L - 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:

CHRND F74L

(CHRND Phe74Leu)


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
 

    GeneTests
  • GeneTests records for the CHRND gene
    CHRND-Related Congenital Myasthenic Syndrome
    CHRND-Related Multiple Pterygium Syndrome, Lethal Type
    Congenital Myasthenic Syndromes
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRND
    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) ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • 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 ...
    www.genome.jp/dbget-bin/www_bget?omim+100720
  • 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 ...
    download.cell.com/AJHG/.../PIIS0002929708000827.mmc1.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in