CDKL5 Proband Entry
Entry ID: cp498
Systematic name: c.587C>T
Protein name: p.Ser196Leu
Alternate name(s): p.S196L
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
Gender: Female
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: rs267608501
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: C
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.587C>T | p.Ser196Leu | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp143 |
Displaying a total number of 1 proband entries.