CDKL5 Variant



Variant ID: cm99

Systematic name: c.2908C>T

Protein name: p.Arg970*

Alternate name(s): p.R970X

Mutation type: nonsense

Domain: regulatory C-terminal

Pathogenicity class: variant of uncertain significance

dbSNP ID: rs267608665

First reference: Psoni, S., Willems, P.J., Kanavakis, E., Mavrou, A., Frissyra, H., Traeger-Synodinos, J., Sofokleous, C., Makrythanassis, P., Kitsiou-Tzeli, S. (2010) A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder. European Journal of Paediatric Neurology 14:188-191. Pubmed ID: 19428276

Comments: in exon 20, affecting only the transcript lowly expressed

Variant last updated on: 2014-03-13 05:45:38

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2908C>T p.Arg970* Rett syndrome - atypical Female 19428276, Psoni et al (2010) cp194

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