CDKL5 Variant

Variant ID: cm115

Systematic name: c.404-1G>A

Protein name: p.?

Alternate name(s): intronic variation

Mutation type: splicing variant

Domain: serine-threonine kinase site

Pathogenicity class: pathogenic variant


First reference: Melani, F., Mei, D., Pisano, T., Savasta, S., Franzoni, E., Ferrari, A.R., Marini, C., Guerrini, R. (2011) CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Developmental Medicine & Child Neurology 53:354-360. Pubmed ID: 21309761

Comments: predicted to cause skipping of exon 7

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.404-1G>A p.? Not Rett syndrome - epileptic encephalopathy Female 21309761, Melani et al (2011) cp226

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