CDKL5 Proband Search Results



cDNA name Protein name Pathogenicity class Phenotype Gender Reference Proband ID
c.404-?_554+?del p.(Asp135Alafs*43) pathogenic variant Rett syndrome - Hanefeld Female 22430159 Pini et al (2012) cp337
c.525A>T p.Arg175Ser pathogenic variant Rett syndrome - Hanefeld Female 22430159 Pini et al (2012) cp341
c.942delA p.Lys314Asnfs*36 pathogenic variant Rett syndrome - Hanefeld Female 22430159 Pini et al (2012) cp340
c.1090G>T p.Glu364* pathogenic variant Rett syndrome - Hanefeld Female 22430159 Pini et al (2012) cp336
c.1854delC p.Asp618Glufs*3 pathogenic variant Rett syndrome - Hanefeld Female 22430159 Pini et al (2012) cp339

Displaying 5 entries