CDKL5 Variant

Variant ID: cm278
Systematic name: c.872G>A
Protein name: p.Cys291Tyr
Alternate name(s):
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
First reference: Fehr S, Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822


Variant last updated on: 2018-10-23 12:21:11

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.872G>A p.Cys291Tyr Not Rett syndrome - Severe encephalopathy and early-onset seizures Male 18809835, Elia et al (2008) cp89
c.872G>A p.Cys291Tyr Not Rett syndrome Female 25657822, Fehr S et al (2015) cp577

Displaying a total number of 2 proband entries matching this variant.