CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.119C>T | p.Ala40Val | pathogenic variant | Rett syndrome - early seizure | Female | 17993579 Rosas-Vargas et al (2008) | cp57 |
c.119C>T | p.Ala40Val | pathogenic variant | Not Rett syndrome - severe epileptic encephalopathy with infantile spasms | Female | 17993579 Rosas-Vargas et al (2008) | cp58 |
c.194G>A | p.Arg65Gln | benign variant | Rett syndrome - atypical (not early-onset seizures) | Female | 17993579 Rosas-Vargas et al (2008) | cp60 |
c.194G>A | p.Arg65Gln | benign variant | Unaffected - unaffected family member | Male | 17993579 Rosas-Vargas et al (2008) | cp61 |
c.659T>C | p.Leu220Pro | pathogenic variant | Not Rett syndrome - severe epileptic encephalopathy with infantile spasms | Female | 17993579 Rosas-Vargas et al (2008) | cp59 |
Displaying 5 entries