CDKL5 Variant

Variant ID: cm50
Systematic name: c.425T>A
Protein name: p.Leu142*
Alternate name(s): p.L142X
Mutation type: nonsense
Domain: serine-threonine kinase site
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608477

First reference: Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, A., Rio, R., Heron, D., N'Guyen Morel, M.A., Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., Bienvenu, T. (2008) Key clinical features to identify girls with CDKL5 mutations. Brain 131:2647-2661. Pubmed ID: 18790821

Comments: Bahi-Buisson et al 2008 suggested transcript unstable

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.425T>A p.Leu142* Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821, Bahi-Buisson et al (2008) cp65

Displaying a total number of 1 proband entries matching this variant.