CDKL5 Proband Entry

Entry ID: cp542

Systematic name: c.2477-?_2713+?del

Protein name: p.Ser833Thrfs*22

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: Not stated

Source of DNA:

Familial testing: No

Familial X-inactivation:

Control screening: No


Source: 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

Publication ID:


Entry last updated on: 2018-10-22 14:41:56

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2477-?_2713+?del p.Ser833Thrfs*22 Not Rett syndrome Female 25657822 Fehr S et al (2015) cp541

Displaying a total number of 1 proband entries.