CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.*130_*131delinsAT | p.= | benign variant | Rett syndrome - congenital onset | Female | 21212452 Rajaei et al (2011) | cp282 |
c.*130_*131delinsAT | p.= | benign variant | Rett syndrome - congenital onset | Female | 21212452 Rajaei et al (2011) | cp283 |
c.*130_*131delinsAT | p.= | benign variant | Rett syndrome - congenital onset | Female | 21212452 Rajaei et al (2011) | cp284 |
c.*130_*131delinsAT | p.= | benign variant | Rett syndrome - congenital onset | Female | 21212452 Rajaei et al (2011) | cp285 |
Displaying 4 entries