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

dbSNP ID:

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

Comments:

Variant last updated on: 2014-03-13 05:45:19

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.