CDKL5 Proband Entry
Entry ID: cp443
Systematic name: c.638G>A
Protein name: p.Gly213Glu
Alternate name(s): p.G213E
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - infantile spasms
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: Not known
Method of testing: exome sequencing, ~88% CDKL5 coding sequence
Source of DNA: primary cells
Familial testing: de novo
Familial X-inactivation:
Control screening: not found in 436/436 controls
dbSNP ID:
Source: Epi4K Consortium and Epilepsy Phenome/Genome Project (2013) De novo mutations in epileptic encephalopathies. Nature 501:217-221. Pubmed ID: 23934111
Publication ID: dh
Comments: details of mutation given in supplementary information
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
There are no other entries in the database with a similar genotype.