CDKL5 Variant

   CSV explantation text

Variant ID: cm152
Systematic name: c.1784dupG
Protein name: p.Leu596Thrfs*15
Alternate name(s): p.L596TfsX15
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: pathogenic variant

First reference: Stalpers, X., Spruijt, L., Yntema, H.G., Verrips, A. (2012) Clinical phenotype of 5 females with a CDKL5 mutation. Journal of Child Neurology 27:90-93. Pubmed ID: 21765152


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.1784dupG p.Leu596Thrfs*15 Not Rett syndrome - early-onset epilepsy with severe intellectual disability Female 21765152, Stalpers et al (2012) cp334

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