CDKL5 Variant
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
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.[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.