CDKL5 Proband Entry
Entry ID: cp414
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 - early-onset epilepsy
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: Not known
Method of testing: direct, exons 2-21
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608663
Source: Mirzaa, G.M., Paciorkowski, A.R., Marsh, E.D., Berry-Kravis, E.M., Medne, L., Grix, A., Wirrell, E.C., Powell, B.R., Nickels, K.C., Burton, B., Paras, A., Kim, K., Chung, W., Dobyns, W.B., Das, S. (2013) CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatric Neurology 48:367-377. Pubmed ID: 23583054
Publication ID: 5, LR11-421
Comments:
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 - epileptic encephalopathy | Male | 22264704 Moseley et al (2012) | cp497 |
Displaying a total number of 1 proband entries.