CDKL5 Variant

   CSV explantation text

Variant ID: cm126
Systematic name: c.2497-?_*1085del
Protein name: p.?
Alternate name(s): p.S833fs (deletion of exons 18 to 21)
Mutation type: exonic deletion or duplication
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant

First reference: Nishimura, A., Takano, T., Mizuguchi, T., Saitsu, H., Takeuchi, Y., Matsumoto, N. (2009) CDKL5 disruption by t(X;18) in a girl with West syndrome. Clinical Genetics 74:288-290. Pubmed ID: 18564362

Comments: remainder of protein uncertain

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-?_*1085del p.? Not Rett syndrome - West syndrome Female 18564362, Nishimura et al (2009) cp270

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