CDKL5 Proband Entry
Entry ID: cp545
Systematic name: c.2711delC
Protein name: p.Pro904Glnfs*23
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
dbSNP ID:
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:
Comments:
Entry last updated on: 2018-10-22 14:41:56
Similar entries in the proband database
There are no other entries in the database with a similar genotype.