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: 2014-10-31 04:42:32

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