CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.379C>T p.His127Tyr likely pathogenic variant Not Rett syndrome - Lennox-Gastaut syndrome Unknown 23934111 Epi4K Consortium et al (2013) cp442
c.638G>A p.Gly213Glu likely pathogenic variant Not Rett syndrome - infantile spasms Male 23934111 Epi4K Consortium et al (2013) cp443
c.1390C>T p.Gln464* pathogenic variant Not Rett syndrome - infantile spasms Female 23934111 Epi4K Consortium et al (2013) cp444

Displaying 3 entries