CHRND R443X - GET-Evidence

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

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Curation:
Currentness:

CHRND R443X

(CHRND Arg443Stop)


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)
  • 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
  • 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 ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • 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 ...
    download.cell.com/AJHG/.../PIIS0002929708000827.mmc1.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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