IKBKAP R696P - GET-Evidence

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

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Curation:
Currentness:

IKBKAP R696P

(IKBKAP Arg696Pro)


Short summary

Familial Dysautonomia

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

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (187 hits -- see all)
  • Familial dysautonomia: detection of the IKBKAP IVS20(+6T ...
    Two IKBKAP mutations, IVS20(+6T --> C) and R696P, have been identified in FD patients of AJ descent. ... In contrast, the R696P mutation has been identified in only a few AJ ...
    www.ncbi.nlm.nih.gov/pubmed/12116234
  • Tissue-Specific Expression of a Splicing Mutation in the ...
    in four patients is a missense (R696P) mutation in exon 19, which is predicted to disrupt a potential ... Genomic structure of IKBKAP, showing orientation and placement of the ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • BioPortfolio - IKBKAP
    IKBKAP - BioPortfolio ... R696P,. IVS20(+6)T>C ... ASPA, IKBKAP, FANCC, GBA,. MCOLN1, SMPD1, HEXA) . TO DETERMINE CARRIER STATUS FOR EIGHT DISEASES ...
    www.bioportfolio.com/search/IKBKAP.html
  • Familial Dysautonomia Mutation Frequency: Clinical Testing of ...
    age 30. The responsible gene, IKBKAP, and two mutations accounting ... dysautonomia: Detection of the IKBKAP IVS20+6T>C and R696P muta- tions and frequencies ...
    genzymegenetics.com/pdf/publications/...
  • Tissue-Specific Expression of a Splicing Mutation in the ...
    Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia ... of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1274473/?tool=pubmed
  • Coriell Cell Repositories and the Sample Submission Process
    Coriell Institute for Medical Research. Outline of the Presentation ... One IKBKAP mutation [R696P(familial dysautonomia)] • One GALT mutations [S135L ...
    wwwn.cdc.gov/mlp/pdf/GeneticsQC/1104conference/JBeck.pdf
  • 6030 - Familial Dysautonomia - DNA Analysis
    Familial Dysautonomia (FD) is an inherited sensory neuropathy that affects individuals of Ashkenazi Jewish ... The R696P mutation has been found in a limited number of patients ...
    www.bcm.edu/geneticlabs/tests/dna/fd.htm
  • Mount Sinai - Find A Faculty
    A major focus of the molecular genetics diagnostic laboratory is performing ... Detection of the IKBKAP IVS20 +T>C and R696P mutations and frequencies among ...
    mountsinai.org/Find A Faculty/profile.do?...
  • Mount Sinai - Center for Jewish Genetic Diseases - Department ...
    Familial Dysautonomia: Detection of the IKBKAP IVS20+T>C and R696P mutations and frequencies among Ashkenazi ... of the IKBKAP IVS20 +T>C and R696P Mutations and Frequencies ...
    www.mssm.edu/jewish_genetics/resources.shtml
  • research
    Tocotrienols induce IKBKAP expression: a possible therapy for ... dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi ...
    www.fdhope.org/FamilialDysautonomia/AboutFD/research.htm

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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