CDKL5 Variant



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

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 05:52:46

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.