CDKL5 Variant

Variant ID: cm160
Systematic name: c.-162-?_64+?del
Protein name: p.Met1?
Alternate name(s): p.M1? (exon 2 deletion)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
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.-162-?_64+?del p.Met1? Not Rett syndrome - epileptic encephalopathy Female 22832775, Jahn et al (2013) cp344

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