CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.379C>T | p.His127Tyr | likely pathogenic variant | Not Rett syndrome - Lennox-Gastaut syndrome | Unknown | 23934111 Epi4K Consortium et al (2013) | cp442 |
c.638G>A | p.Gly213Glu | likely pathogenic variant | Not Rett syndrome - infantile spasms | Male | 23934111 Epi4K Consortium et al (2013) | cp443 |
c.1390C>T | p.Gln464* | pathogenic variant | Not Rett syndrome - infantile spasms | Female | 23934111 Epi4K Consortium et al (2013) | cp444 |
Displaying 3 entries