CDKL5 Variant

Variant ID: cm261
Systematic name: c.506_507delCA
Protein name: p.Thr168Argfs*36
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: TEY phosphorylation site
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.506_507delCA p.Thr169Argfs*36 Not Rett syndrome - early-onset seizures Male 23064044, Raymond et al (2013) cp357
c.506_507delCA p.Thr169Argfs*36 Not Rett syndrome Female 25657822, Fehr S et al (2015) cp559

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