CDKL5 Variant

   CSV explantation text

Variant ID: cm163
Systematic name: c.1375C>T
Protein name: p.Gln459*
Alternate name(s): p.Q459X
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant

First reference: Zhang, Z., Bao, X., Zhang, J., Zhao, Y., Cao, G., Pan, H., Zhang, J., Wei, L., Wu, X. (2012) Molecular characteristics of Chinese patients with Rett syndrome. European Journal of Medical Genetics 55:677-681. Pubmed ID: 22982301


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.1375C>T p.Gln459* Rett syndrome - early-onset seizure Female 22982301, Zhang et al (2012) cp347

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