CDKL5 Variant

Variant ID: cm429
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
First reference: 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


Variant last updated on: 2019-10-10 10:59:12

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.197_198delCT p.Leu67Glnfs*23 Rett syndrome - atypical Female 27734276, Gokben, S. et al (2017) cp585

Displaying a total number of 1 proband entries matching this variant.