CDKL5 Variant



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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

Comments:

Variant last updated on: 2014-03-13 05:43:05

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

Displaying a total number of 3 proband entries matching this variant.