CDKL5 Variant

   CSV explantation text

Variant ID: cm254
Systematic name: c.146-6T>G
Protein name: p.Glu49Valfs*2
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
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.146-6T>G p.Glu49Valfs*2 Not Rett syndrome Female 25657822, Fehr S et al (2015) cp520

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