CDKL5 Variant

   CSV explantation text

Variant ID: cm90
Systematic name: c.[1675C>T];[=]
Protein name: p.[Arg559*];[=]
Alternate name(s): p.[R559X];[=]
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant

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

Comments: heterozygous mutation (written as such in 47,XXY males only)

Variant last updated on: 2014-03-13 05:45:19

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

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