CDKL5 Variant

   CSV explantation text

Variant ID: cm221
Systematic name: c.1790dupG
Protein name: p.Tyr598Leufs*13
Alternate name(s): p.Y598fs
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: pathogenic variant

First reference: Zhao, Y., Zhang, X., Bao, X., Zhang, Q., Zhang, J., Cao, G., Zhang, J., Li, J., Wei, L., Pan, H., Wu, X. (2014) Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC Medical Genetics 15:24. Pubmed ID: 24564546

Comments: mutation listed in publication as c.1791insG, which is ambiguous and may be either c.1790_1791insG (assumed here and named appropriately as c.1790dupG) or c.1791_1792insG (the corresponding protein name would become p.Tyr598Valfs*13)

Variant last updated on: 2018-06-05 14:40:30

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1790dupG p.Tyr598Leufs*13 Rett syndrome - atypical, early onset seizures Female 24564546, Zhao et al (2014) cp446

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