CYP4F22 R243H - GET-Evidence

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CYP4F22 R243H

(CYP4F22 Arg243His)

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Short summary


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


Insufficiently evaluated not reviewed

(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 CYP4F22 gene
    Autosomal Recessive Congenital Ichthyosis
    CYP4F22-Related Autosomal Recessive Congenital Ichthyosis
  • Score: 1.0 (probably damaging)
    Web search results (3 hits -- see all)
  • Mutations in a new cytochrome P450 gene in lamellar ...
    (F59L) in exon 1 (F5); 728G!A (R243H) in exon 6 (F4); 1114C!T (R372W) in exon 8 (F7) ... named CYP4F22 by D.R. Nelson, and is described in refer- ence 35. This name has not been ...
  • Mutations in a new cytochrome P450 gene in lamellar ...
    Human Molecular Genetics Advance Access originally published online on January ... same as a gene which has been named CYP4F22 by D.R. Nelson, and is described in ...
  • OMIM: 611495
    CYP4F22 is evolutionarily conserved, displays 86% protein homology with rodent ... the CYP4F22 gene, resulting in an arg243-to-his (R243H) substitution ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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