CDKL5 Variant

   CSV explantation text

Variant ID: cm243
Systematic name: c.745-?_2276+?del
Protein name: p.Phe249Glufs*4
Alternate name(s): p.F249fs
Mutation type: exonic deletion or duplication
Domain: catalytic domain
Pathogenicity class: pathogenic variant

First reference: Moseley, B.D., Dhamija, R., Wirrell, E.C., Nickels, K.C. (2012) Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. Pediatric Neurology 46:101-105. Pubmed ID: 22264704

Comments: protein name assuming skipping of exons 10-15

Variant last updated on: 2018-06-05 14:40:30

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.745-?_2276+?del p.Phe249Glufs*4 Not Rett syndrome - epileptic encephalopathy Male 22264704, Moseley et al (2012) cp495

Displaying a total number of 1 proband entries matching this variant.