CDKL5 Variant



Variant ID: cm301

Systematic name: c.2413C>T

Protein name: p.Gln805*

Alternate name(s):

Mutation type: nonsense

Domain: regulatory C-terminal

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.2413C>T p.Gln805* Not Rett syndrome - early-onset epilepsy Male 23583054, Mirzaa et al (2013) cp412
c.2413C>T p.Gln805* Not Rett syndrome - early-onset epilepsy Male 23583054, Mirzaa et al (2013) cp412
c.2413C>T p.Gln805* Not Rett syndrome Male 25657822, Fehr S et al (2015) cp539
c.2413C>T p.Gln805* Not Rett syndrome Male 25657822, Fehr S et al (2015) cp539

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