CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.[2500C>T;2995G>A] | p.Gln834* | pathogenic variant | Rett syndrome - early seizure | Female | 16813600 Nectoux et al (2006) | cp54 |
c.2995G>A | p.Val999Met | benign variant | Unaffected - unaffected family member | Female | 16813600 Nectoux et al (2006) | cp55 |
Displaying 2 entries