CDKL5 Variant

Variant ID: cm161

Systematic name: c.403+1G>A

Protein name: p.?

Alternate name(s): intronic variation

Mutation type: splicing variant

Domain: serine-threonine kinase site

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

Comments: disrupts splice site but effect on transcript uncertain

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.403+1G>A p.? Rett syndrome - early-onset seizure Female 22982301, Zhang et al (2012) cp345

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