CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.915T>C | p.= | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | 27187038 Zahorakova D et al (2016) | cp504 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | 27187038 Zahorakova D et al (2016) | cp507 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - epileptic encephalopathy | Female | 27187038 Zahorakova D et al (2016) | cp508 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - epileptic encephalopathy | Male | 27187038 Zahorakova D et al (2016) | cp509 |
c.2372A>C | p.Gln791Pro | benign variant | Not Rett syndrome - epileptic encephalopathy | Male | 27187038 Zahorakova D et al (2016) | cp510 |
Displaying 5 entries