CDKL5 Proband Entry



Entry ID: cp470

Systematic name: c.65dupG

Protein name: p.Ala23Serfs*7

Alternate name(s): p.A23fs

Mutation type: frameshift insertion and/or deletion

Domain: ATP binding region

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, not stated

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608420

Source: Moseley, B.D., Dhamija, R., Wirrell, E.C., Nickels, K.C. (2012) Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. Pediatric Neurology 46:101-105. Pubmed ID: 22264704

Publication ID: A

Comments:

Entry last updated on: 2015-02-26 03:24:09

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