CDKL5 Variant
Variant ID: cm151
Systematic name: c.283-3_290del11
Protein name: p.Asn95Ilefs*2
Alternate name(s): p.N95IfsX2
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: Hagebeuk et al 2013 showed that deletion affects splice site of exon 6, leading of exon 6 skipping in the mRNA and the shift in reading frame causes a truncated protein product
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.283-3_290del11 | p.Asn95Ilefs*2 | Not Rett syndrome - early-onset epilepsy with severe intellectual disability | Female | 21765152, Stalpers et al (2012) | cp333 |
c.283-3_290del11 | p.Asn95Ilefs*2 | Rett syndrome - atypical | Female | 23151060, Hagebeuk et al (2013) | cp407 |
Displaying a total number of 2 proband entries matching this variant.