CDKL5 Variant

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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: 2018-06-05 14:40:30

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.