CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.-253-?_*1085del | p.Met1? | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Female | 22832775 Jahn et al (2013) | cp418 |
c.-253-?_*1085del | p.? | pathogenic variant | Not Rett syndrome - early-onset epilepsy | Female | 22832775 Jahn et al (2013) | cp418 |
c.-162-?_64+?del | p.Met1? | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22832775 Jahn et al (2013) | cp344 |
c.207_213del7 | p.Glu70Leufs*4 | pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 22832775 Jahn et al (2013) | cp343 |
Displaying 4 entries