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