CDKL5 Variant
Variant ID: cm66
Systematic name: c.100-2A>G
Protein name: p.Glu34Lysfs*27
Alternate name(s): p.E34KfsX27 (r.100_145del, exon 4 skipping)
Mutation type: splicing variant
Domain: ATP binding region
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608423
First reference: Nemos, C., Lambert, L., Giuliano, F., Doray, B., Roubertie, A., Goldenberg, A., Delobel, B., Lyet, V., N'guyen, M.A., Saunier, A., Verneau, F., Jonveaux, P., Philippe, C (2009) Mutation spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clinical Genetics 76:357-371. Pubmed ID: 19793311
Comments: splice site mutation causing skipping of exon 4
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.100-2A>G | p.Glu34Lysfs*27 | Not Rett syndrome - early-onset encephalopathy | Female | 19793311, Nemos et al (2009) | cp94 |
Displaying a total number of 1 proband entries matching this variant.