CDKL5 Variant
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
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: 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.