CDKL5 Variant

   CSV explantation text

Variant ID: cm88
Systematic name: c.-253-?_-162-27968del
Protein name: p.?
Alternate name(s): p.M1? (deletion of promoter and exon 1)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: pathogenic variant

First reference: Bahi-Buisson, N., Girard, B., Gautier, A., Nectoux, J., Fichou, J., Saillour, Y., Poirier, K., Chelly, J., Bienvenu, T. (2010) Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene. American Journal of Medical Genetics Part B 153B:202-207. Pubmed ID: 19455595


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.-253-?_-162-27968del p.? Rett syndrome - early onset seizures Female 19455595, Bahi-Buisson et al (2010) cp139

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