CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.283-3_290del11 | p.Asn95Ilefs*2 | pathogenic variant | Rett syndrome - atypical | Female | 23151060 Hagebeuk et al (2013) | cp407 |
c.656A>C | p.Gln219Pro | likely pathogenic variant | Rett syndrome - atypical | Female | 23151060 Hagebeuk et al (2013) | cp405 |
c.660_664dup | p.Thr222Ilefs*8 | pathogenic variant | Rett syndrome - atypical | Female | 23151060 Hagebeuk et al (2013) | cp406 |
c.2635_2636delCT | p.Leu879Glufs*30 | pathogenic variant | Rett syndrome - atypical | Female | 23151060 Hagebeuk et al (2013) | cp408 |
Displaying 4 entries