CYP4F22 A194V - 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.

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Curation:
Currentness:

CYP4F22 A194V

(CYP4F22 Ala194Val)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • T @ chr19:15648714: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr19:15509714

 

Other external references
 

    GeneTests
  • GeneTests records for the CYP4F22 gene
    Autosomal Recessive Congenital Ichthyosis
    CYP4F22-Related Autosomal Recessive Congenital Ichthyosis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP4F22
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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