CDKL5 Variant



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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: 2014-03-13 05:52:46

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.