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