CDKL5 Proband Entry



Entry ID: cp497

Systematic name: c.2593C>T

Protein name: p.Gln865*

Alternate name(s): p.Q865X

Mutation type: nonsense

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: not stated, not known

Source of DNA: not stated

Familial testing: mother negative

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608663

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: B

Comments: possible to be duplicated entry in Mirzaa et al 2013. Pubmed: 23583054

Entry last updated on: 2015-02-26 03:25:13

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2593C>T p.Gln865* Not Rett syndrome - early-onset epilepsy Male 23583054 Mirzaa et al (2013) cp414

Displaying a total number of 1 proband entries.