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
dbSNP ID:
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
Comments:
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.