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: 2018-06-05 13:45:42
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.