CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.1648C>T | p.Arg550* | pathogenic variant | Not Rett syndrome | Female | 27599155 Lilles S et al (2016) | cp583 |
c.2152G>A | p.Val718Met | likely pathogenic variant | Not Rett syndrome | Male | 27599155 Lilles S et al (2016) | cp581 |
c.2152+1G>A | p.? | likely pathogenic variant | Not Rett syndrome | Male | 27599155 Lilles S et al (2016) | cp582 |
c.2225_2228del | p.Glu742Alafs*41 | pathogenic variant | Not Rett syndrome | Male | 27599155 Lilles S et al (2016) | cp580 |
Displaying 4 entries