CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.403+1G>A | p.? | pathogenic variant | Rett syndrome - early-onset seizure | Female | 22982301 Zhang et al (2012) | cp345 |
c.1375C>T | p.Gln459* | pathogenic variant | Rett syndrome - early-onset seizure | Female | 22982301 Zhang et al (2012) | cp347 |
c.2046+1G>A | p.? | pathogenic variant | Rett syndrome - early-onset seizure | Female | 22982301 Zhang et al (2012) | cp346 |
Displaying 3 entries