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
dbSNP ID:
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.