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: 2015-02-26 03:25:13

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.