CDKL5 Variant

Variant ID: cm233

Systematic name: c.2497-?_2713+?del

Protein name: p.Ser855Thrfs*22

Alternate name(s): p.S855fs (deletion of exon 18)

Mutation type: exonic deletion or duplication

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant


First reference: Directly submitted

Comments: de novo deletion, removes nuclear export signal and regulatory domains

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.2497-?_2713+?del p.Ser855Thrfs*22 Not Rett syndrome - epilepsy, intellectual disability Female Directly submitted cp482

Displaying a total number of 1 proband entries matching this variant.