CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.2830C>A | p.Pro944Thr | likely benign variant | Rett syndrome - atypical | Female | 23756444 Diebold et al (2014) | cp435 |
c.2830C>A | p.Pro944Thr | likely benign variant | Unaffected - unaffected family member | Male | 23756444 Diebold et al (2014) | cp436 |
c.2995G>A | p.Val999Met | benign variant | Not Rett syndrome - developmental delay (no seizures) | Female | 23756444 Diebold et al (2014) | cp433 |
c.2995G>A | p.Val999Met | benign variant | Unaffected - unaffected family member | Male | 23756444 Diebold et al (2014) | cp434 |
Displaying 4 entries