CDKL5 Variant

   CSV explantation text

Variant ID: cm49
Systematic name: c.352C>T
Protein name: p.Gln118*
Alternate name(s): p.Q118X
Mutation type: nonsense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608453

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.352C>T p.Gln118* Rett syndrome - atypical Female 18790821, Bahi-Buisson et al (2008) cp64

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