CDKL5 Variant
Systematic name: c.404-1G>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: Melani, F., Mei, D., Pisano, T., Savasta, S., Franzoni, E., Ferrari, A.R., Marini, C., Guerrini, R. (2011) CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Developmental Medicine & Child Neurology 53:354-360. Pubmed ID: 21309761
Comments: predicted to cause skipping of exon 7
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.404-1G>A | p.? | Not Rett syndrome - epileptic encephalopathy | Female | 21309761, Melani et al (2011) | cp226 |
Displaying a total number of 1 proband entries matching this variant.