CDKL5 Proband Entry
Entry ID: cp444
Systematic name: c.1390C>T
Protein name: p.Gln464*
Alternate name(s): p.Q464X
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - infantile spasms
Other mutation:
X-inactivation results: No
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: ec
Comments: details of mutation given in supplementary information, also 2 de novo missense variants found in CSNK1E and MAST1 genes
Entry last updated on: 2018-06-05 13:45:42
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