CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.[1767C>T(;)2995G>A] | p.[=(;)Val999Met] | benign variant | Rett syndrome - atypical (early seizure variant) | Female | 23242510 Das et al (2013) | cp439 |
c.2200A>G | p.Thr734Ala | variant of uncertain significance | Rett syndrome - atypical | Female | 23242510 Das et al (2013) | cp441 |
c.2372A>C | p.Gln791Pro | benign variant | Rett syndrome - atypical | Female | 23242510 Das et al (2013) | cp440 |
c.2896G>A | p.Val966Ile | likely benign variant | Rett syndrome - atypical | Female | 23242510 Das et al (2013) | cp437 |
c.3032C>T | p.Ala1011Val | likely benign variant | Rett syndrome - atypical | Female | 23242510 Das et al (2013) | cp438 |
Displaying 5 entries