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:
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.