CDKL5 Variant

Variant ID: cm197

Systematic name: c.2593C>T

Protein name: p.Gln865*

Alternate name(s): p.Q865X

Mutation type: nonsense

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608663

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 C-terminus

Variant last updated on: 2014-03-13 05:52:46

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2593C>T p.Gln865* Not Rett syndrome - early-onset epilepsy Male 23583054, Mirzaa et al (2013) cp414
c.2593C>T p.Gln865* Not Rett syndrome - epileptic encephalopathy Male 22264704, Moseley et al (2012) cp497

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