CDKL5 Variant

   CSV explantation text

Variant ID: cm149
Systematic name: c.275_276insAA
Protein name: p.Glu93Metfs*21
Alternate name(s): p.E93MfsX21
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
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.275_276insAA p.Glu93Metfs*21 Not Rett syndrome - early-onset epilepsy with severe intellectual disability Female 21765152, Stalpers et al (2012) cp330

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