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

dbSNP ID:

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

Comments:

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.Thr168Argfs*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
c.506_507delCA p.Thr168Argfs*36 Not Rett syndrome Female 25657822, Fehr S et al (2015) cp559

Displaying a total number of 4 proband entries matching this variant.