CDKL5 Variant



Variant ID: cm104

Systematic name: c.404-1385_554+59del

Protein name: p.(Asp135Alafs*43)

Alternate name(s): p.D135fs (deletion of exons 7 and 8)

Mutation type: exonic deletion or duplication

Domain: serine-threonine kinase site

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Mei, D., Marini, C., Novara, F., Bernardina, B.D., Granata, T., Fontana, E., Parrini, E., Ferrari, A.R., Murgia, A., Zuffardi, O., Guerrini, R. (2010) Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 51:647-654. Pubmed ID: 19780792

Comments: protein change prediction based on skipping on exons 7 and 8

Variant last updated on: 2014-03-13 05:51:47

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.404-1385_554+59del p.(Asp135Alafs*43) Not Rett syndrome - early onset epileptic encephalopathy Female 19780792, Mei et al (2010) cp203

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