CDKL5 Variant



Variant ID: cm113

Systematic name: c.400C>T

Protein name: p.Arg134*

Alternate name(s): p.R134X

Mutation type: nonsense

Domain: serine-threonine kinase site

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608472

First reference: Rademacher, N., Hambrock, M., Fischer, U., Moser, B., Ceulemans, B., Lieb, W., Boor, R., Stefanova, I., Gillessen-Kaesbach, G., Runge, C., Korenke, G.C., Spranger, S., Laccone, F., Tzschach, A., Kalscheuer, V.M. (2011) Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics 12:165-167. Pubmed ID: 21318334

Comments:

Variant last updated on: 2014-03-13 05:51:47

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.400C>T p.Arg134* Not Rett syndrome - early-onset seizures and mental retardation Female 21318334, Rademacher et al (2011) cp223
c.400C>T p.Arg134* Not Rett syndrome - epileptic encephalopathy Female 22678952, Bahi-Buisson et al (2012) cp457

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