CDKL5 Proband Entry
Entry ID: cp585
Systematic name: c.197_198delCT
Protein name: p.Leu67Glnfs*23
Alternate name(s): p.L67QfsX23
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - atypical
Other mutation:
X-inactivation results: Not known
Chromosomal abnormality: Not known
Method of testing: Not stated
Source of DNA:
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Gokben, S. Onay, H. Yilmaz, S. Atik, T. Serdaroglu, G. Tekin, H. Ozkinay, F. (2017) Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy . Acta neurologica Belgica 117(1):131-138. Pubmed ID: 27734276
Publication ID:
Comments:
Entry last updated on: 2019-10-10 11:03:23
Similar entries in the proband database
There are no other entries in the database with a similar genotype.