CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.1942C>T | p.Gln648* | pathogenic variant | Not Rett syndrome | Male | 27290639 Pronicka E et al (2016) | cp579 |
Displaying 1 entries
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.1942C>T | p.Gln648* | pathogenic variant | Not Rett syndrome | Male | 27290639 Pronicka E et al (2016) | cp579 |
Displaying 1 entries