CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.1648C>T p.Arg550* pathogenic variant Not Rett syndrome Female 27599155 Lilles S et al (2016) cp583
c.2152G>A p.Val718Met likely pathogenic variant Not Rett syndrome Male 27599155 Lilles S et al (2016) cp581
c.2152+1G>A p.? likely pathogenic variant Not Rett syndrome Male 27599155 Lilles S et al (2016) cp582
c.2225_2228del p.Glu742Alafs*41 pathogenic variant Not Rett syndrome Male 27599155 Lilles S et al (2016) cp580

Displaying 4 entries