CDKL5 Variant

   CSV explantation text

Variant ID: cm56
Systematic name: c.2045_2046delAGins18
Protein name: p.Glu682Glyfs*12
Alternate name(s): p.E682GfsX12
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: pathogenic variant

First reference: Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, A., Rio, R., Heron, D., N'Guyen Morel, M.A., Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., Bienvenu, T. (2008) Key clinical features to identify girls with CDKL5 mutations. Brain 131:2647-2661. Pubmed ID: 18790821

Comments: Bahi-Buisson et al 2008 showed mislocalisation of protein

Variant last updated on: 2014-03-13 05:43:05

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2045_2046delAGins18 p.Glu682Glyfs*12 Rett syndrome - atypical Female 18790821, Bahi-Buisson et al (2008) cp72

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