CDKL5 Variant
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: 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.