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