CDKL5 Proband Entry
Entry ID: cp91
Systematic name: c.533G>C
Protein name: p.Arg178Pro
Alternate name(s): p.R178P
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - Severe encephalopathy and early-onset seizures
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: No
Method of testing: DHPLC, all exons
Source of DNA: blood
Familial testing: not found in healthy mother
Familial X-inactivation:
Control screening: not found in 400/400 chromosomes
dbSNP ID: rs267606715
Source: Elia, M., Falco, M., Ferri, R., Spalletta, A., Bottitta, M., Calabrese, G., Carotenuto, M., Musumeci, S.A., Lo Giudice, M., Fichera, M. (2008) CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 71:997-999. Pubmed ID: 18809835
Publication ID:
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.533G>C | p.Arg178Pro | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp97 |
Displaying a total number of 1 proband entries.