IGHMBP2 Q41X - 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:

IGHMBP2 Q41X

(IGHMBP2 Gln41Stop)


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
 

    Web search results (4 hits -- see all)
  • Infantile Spinal Muscular Atrophy with Respiratory Distress ...
    binding protein 2 (IGHMBP2) on chromosome 11q13. Our aim was to review the clinical ... infants affected with SMARD1 and report on 26 novel IGHMBP2 mutations. ...
    www.smard1.it/AnnNeurolDec03.pdf
  • Inherited Peripheral Neuropathies
    Lookup Mutations | Newest Entries | Submit Mutation | Table Legend ... Entries Submit Mutation Table Legend. last updated 17-Dec-07. Mutations in IGHMBP2. Name ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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