CDKL5 Variant

Variant ID: cm60
Systematic name: c.99+1G>T
Protein name: p.Ala23Asnfs*3
Alternate name(s): intronic variation (r.65_99del, exon 3 skipping)
Mutation type: splicing variant
Domain: ATP binding region
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608421

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 skipping of exon 3

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.99+1G>T p.Ala23Asnfs*3 Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821, Bahi-Buisson et al (2008) cp78

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