CDKL5 Variant

   CSV explantation text

Variant ID: cm139
Systematic name: c.[1238C>G(;)1400A>C]
Protein name: p.[Ser413*(;)His467Pro]
Alternate name(s): p.[S413X;H467P]
Mutation type: combination/multiple mutations
Domain: not specified
Pathogenicity class: pathogenic variant

First reference: Liang, J.-S., Shimojima, K., Takayama, R., Natsume, J., Shichiji, M., Hirasawa, K., Kimai, K., Okanishi, T., Mizuno, S., Okumura, A., Sugawara, M., Ito, T., Ikeda, H., Takahashi, Y., Oguni, H., Imai, K., Osawa, M., Yamamoto, T. (2011) CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 52:1835-1842. Pubmed ID: 21770923


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.[1238C>G(;)1400A>C] p.[Ser413*(;)His467Pro] Not Rett syndrome - epileptic encephalopathy Female 21770923, Liang et al (2011) cp292

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