CDKL5 Variant

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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.