CDKL5 Variant

Variant ID: cm86
Systematic name: c.1675C>T
Protein name: p.Arg559*
Alternate name(s): p.R559X
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608395

First reference: Sartori, S., Di Rosa, G., Polli, R., Bettella, E., Tricomi, G., Tortorella, G., Murgia, A. (2009) A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. American Journal of Medical Genetics Part A 149A:232-236. Pubmed ID: 19161156


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.[1675C>T];[=] p.[Arg559*];[=] Rett syndrome - early-onset seizures Male 19161156, Sartori et al (2009) cp137
c.1675C>T p.Arg559* Not Rett syndrome - epileptic encephalopathy Female 21770923, Liang et al (2011) cp293
c.1675C>T p.Arg559* Not known Female Directly submitted cp466

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