CDKL5 Variant

   CSV explantation text

Variant ID: cm258
Systematic name: c.351T>A
Protein name: p.Tyr117*
Alternate name(s):
Mutation type: nonsense
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.351T>A p.Tyr117* Not Rett syndrome Male 25657822, Fehr S et al (2015) cp548

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