CDKL5 Variant

   CSV explantation text

Variant ID: cm159
Systematic name: c.207_213del7
Protein name: p.Glu70Leufs*4
Alternate name(s): p.E70Lfs*4
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
Pathogenicity class: pathogenic variant

First reference: Jahn, J., Caliebe, von Spiczak, S. Boor, R., Stefanova, I., Stephani, U., Helbig, I., Muhle, H. (2013) CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients. Journal of Child Neurology 28:937-941. Pubmed ID: 22832775


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.207_213del7 p.Glu70Leufs*4 Not Rett syndrome - epileptic encephalopathy Female 22832775, Jahn et al (2013) cp343

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