CDKL5 Variant



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

dbSNP ID:

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

Comments:

Variant last updated on: 2014-03-13 05:52:46

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.