CDKL5 Variant

Variant ID: cm426
Systematic name: c.2225_2228del
Protein name: p.Glu742Alafs*41
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: pathogenic variant
First reference: Lilles, S. Talvik, I. Noormets, K. Vaher, U. Ounap, K. Reimand, T. Sander, V. Ilves, P. Talvik, T. (2016) CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature. Neuropediatrics. 47(6):361-367. Pubmed ID: 27599155


Variant last updated on: 2019-10-10 10:59:12

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2225_2228del p.Glu742Alafs*41 Not Rett syndrome Male 27599155, Lilles S et al (2016) cp580

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