CDKL5 Proband Entry
Entry ID: cp496
Systematic name: c.812T>C
Protein name: p.Leu271Pro
Alternate name(s): p.L271P
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: not found in father or mother
Familial X-inactivation:
Control screening: No
dbSNP ID:
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: F
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
There are no other entries in the database with a similar genotype.