CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.234delA | p.Arg80Valfs*33 | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Female | 24564546 Zhao et al (2014) | cp451 |
c.890_891dupTT | p.Gln298Phefs*53 | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | 24564546 Zhao et al (2014) | cp447 |
c.890_891dupTT | p.Gln298Phefs*53 | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | 24564546 Zhao et al (2014) | cp448 |
c.1111delC | p.Ala372Leufs*121 | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | 24564546 Zhao et al (2014) | cp445 |
c.1790dupG | p.Tyr598Leufs*13 | pathogenic variant | Rett syndrome - atypical, early onset seizures | Female | 24564546 Zhao et al (2014) | cp446 |
c.2360delA | p.Lys787Argfs*16 | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Female | 24564546 Zhao et al (2014) | cp450 |
c.533G>A | p.Arg178Gln | pathogenic variant | Not Rett syndrome - infantile spasms | Male | 24564546 Zhao et al (2014) | cp449 |
Displaying 7 entries