CDKL5 Variant
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: 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.