CDKL5 Proband Entry

Entry ID: cp555

Systematic name: c.428T>A

Protein name: p. Ile143Asn

Alternate name(s):

Mutation type: missense

Domain: serine-threonine kinase site

Pathogenicity class: variant of uncertain significance

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 14:46:44

Similar entries in the proband database

There are no other entries in the database with a similar genotype.