CDKL5 Variant



   CSV explantation text


Variant ID: cm125

Systematic name: c.-253-?_977+?del

Protein name: p.Met1?

Alternate name(s): p.M1? (deletion of exons 1 to 11)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Van Esch, H., Jansen, A., Bauters, M., Froyen, G., Fryns, J.-P. (2007) Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. American Journal of Medical Genetics A 143A:364-369. Pubmed ID: 17256798

Comments:

Variant last updated on: 2014-03-13 05:51:47

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-253-?_977+?del p.Met1? Not Rett syndrome - severe encephalopathy Male 17256798, Van Esch et al (2007) cp269

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