CDKL5 Variant
Variant ID: cm35
Systematic name: c.175C>T
Protein name: p.Arg59*
Alternate name(s): p.R59X
Mutation type: nonsense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
dbSNP ID: rs62653623
First reference: Archer, H.L., Evans, J., Edwards, S., Colley, J., Newbury-Ecob, R., O'Callaghan, F., Huyton, M., O'Regan, M., Tolmie, J., Sampson, J., Clarke, A., Osborne, J. (2006) CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43:729-734. Pubmed ID: 16611748
Comments: in vitro study (Ricciardi et al 2009) shows abnormal nuclear speckles
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.175C>T | p.Arg59* | Not Rett syndrome - epileptic encephalopathy | Female | 16611748, Archer et al (2006) | cp48 |
c.175C>T | p.Arg59* | Rett syndrome - atypical | Female | 19740913, Ricciardi et al (2009) | cp107 |
c.175C>T | p.Arg59* | Rett syndrome - early-onset seizures | Female | 20493745, Castren et al (2011) | cp195 |
c.175C>T | p.Arg59* | Not Rett syndrome - early-onset epilepsy | Male | 23583054, Mirzaa et al (2013) | cp413 |
c.175C>T | p.Arg59* | Rett syndrome - atypical | Female | 22678952, Bahi-Buisson et al (2012) | cp456 |
Displaying a total number of 5 proband entries matching this variant.