CDKL5 Variant



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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: 2014-03-13 05:45:19

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.