CDKL5 Variant

Variant ID: cm196
Systematic name: c.2413C>T
Protein name: p.Gln805*
Alternate name(s): p.Q805X
Mutation type: nonsense
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608659

First reference: Mirzaa, G.M., Paciorkowski, A.R., Marsh, E.D., Berry-Kravis, E.M., Medne, L., Grix, A., Wirrell, E.C., Powell, B.R., Nickels, K.C., Burton, B., Paras, A., Kim, K., Chung, W., Dobyns, W.B., Das, S. (2013) CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatric Neurology 48:367-377. Pubmed ID: 23583054

Comments: truncation causing loss of nuclear export signal

Variant last updated on: 2018-06-05 14:40:30

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 Male 25657822, Fehr S et al (2015) cp539

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