CDKL5 Variant

Variant ID: cm306
Systematic name: c.2684C>T
Protein name: p.Pro895Leu
Alternate name(s):
Mutation type: missense
Domain: regulatory C-terminal
Pathogenicity class: variant of uncertain significance
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.2684C>T p.Pro895Leu Not Rett syndrome Female 25657822, Fehr S et al (2015) cp544

Displaying a total number of 1 proband entries matching this variant.