CDKL5 Proband Entry
Entry ID: cp450
Systematic name: c.2360delA
Protein name: p.Lys787Argfs*16
Alternate name(s): p.K787fs
Mutation type: frameshift insertion and/or deletion
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - early-onset epileptic encephalopathy
Other mutation:
X-inactivation results: Yes - 52:48
Chromosomal abnormality: Not known
Method of testing: direct, not stated
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Zhao, Y., Zhang, X., Bao, X., Zhang, Q., Zhang, J., Cao, G., Zhang, J., Li, J., Wei, L., Pan, H., Wu, X. (2014) Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC Medical Genetics 15:24. Pubmed ID: 24564546
Publication ID: Patient 9
Comments:
Entry last updated on: 2018-06-05 13:45:42
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