CDKL5 Variant



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

dbSNP ID:

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: 2015-02-26 03:22:52

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.