EIF2B3 A151Shift - 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:

EIF2B3 A151Shift

(EIF2B3 151delAinsShift)


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

  • None available.

Publications
 

Genomes
 

 

Other external references
 

    GeneTests
  • GeneTests records for the EIF2B3 gene
    Childhood Ataxia with Central Nervous System Hypomyelination/Van
    EIF2B3-Related Childhood Ataxia with Central Nervous System Hypo
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EIF2B3

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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