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

dbSNP ID:

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

Comments:

Variant last updated on: 2014-03-13 05:52:46

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.