CDKL5 Variant

   CSV explantation text

Variant ID: cm47
Systematic name: c.1648C>T
Protein name: p.Arg550*
Alternate name(s): p.R550X
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608643

First reference: Pintaudi, M., Giuseppina Baglietto, M., Gaggero, R., Parodi, E., Pessagno, A., Marchi, M., Russo, S., Veneselli, E. (2008) Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature. Epilepsy Behav 12:326-331. Pubmed ID: 18063413


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.1648C>T p.Arg550* Rett syndrome - early-onset seizure Female 18063413, Pintaudi et al (2008) cp62
c.1648C>T p.Arg550* Not Rett syndrome - early-onset seizures and mental retardation Female 21318334, Rademacher et al (2011) cp224
c.1648C>T p.Arg550* Rett syndrome - atypical Female 22678952, Bahi-Buisson et al (2012) cp458
c.1648C>T p.Arg550* Not Rett syndrome Female 27599155, Lilles S et al (2016) cp583

Displaying a total number of 4 proband entries matching this variant.