CDKL5 Variant
Systematic name: c.506_507delCA
Protein name: p.Thr168Argfs*36
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: TEY phosphorylation site
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Fehr S, Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822
Comments:
Variant last updated on: 2018-10-23 12:21:11
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.506_507delCA | p.Thr169Argfs*36 | Not Rett syndrome - early-onset seizures | Male | 23064044, Raymond et al (2013) | cp357 |
c.506_507delCA | p.Thr168Argfs*36 | Not Rett syndrome - early-onset seizures | Male | 23064044, Raymond et al (2013) | cp357 |
c.506_507delCA | p.Thr169Argfs*36 | Not Rett syndrome | Female | 25657822, Fehr S et al (2015) | cp559 |
c.506_507delCA | p.Thr168Argfs*36 | Not Rett syndrome | Female | 25657822, Fehr S et al (2015) | cp559 |
Displaying a total number of 4 proband entries matching this variant.