CDKL5 Variant

   CSV explantation text

Variant ID: cm250

Systematic name: c.1757_1758delCT

Protein name: p.Ser586Cysfs*24

Alternate name(s): p.Ser586Cysfs*24

Mutation type: frameshift insertion and/or deletion


Pathogenicity class: pathogenic variant


First reference: () . :. Pubmed ID: 27187038


Variant last updated on: 2018-06-26 10:15:43

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1757_1758delCT p.Ser586Cysfs*24 Not Rett syndrome - epileptic encephalopathy Female 27187038, et al () cp505

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