CDKL5 Variant

Variant ID: cm51

Systematic name: c.229_232delGAAG

Protein name: p.Glu77Hisfs*35

Alternate name(s): p.E77HfsX35 (p.E77fs)

Mutation type: frameshift insertion and/or deletion

Domain: catalytic domain

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608441

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


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.229_232delGAAG p.Glu77Hisfs*35 Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821, Bahi-Buisson et al (2008) cp67

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