CDKL5 Variant



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

dbSNP ID:

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

Comments:

Variant last updated on: 2014-03-13 05:51:47

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.