CDKL5 Variant

   CSV explantation text

Variant ID: cm65
Systematic name: c.-162-2A>G
Protein name: p.Met1?
Alternate name(s): p.M1? (r.-162_64del, exon 2 skipping)
Mutation type: splicing variant
Domain: 5'UTR
Pathogenicity class: pathogenic variant

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 2 (loss of AUG codon)

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.-162-2A>G p.Met1? Not Rett syndrome - early-onset encephalopathy Female 19793311, Nemos et al (2009) cp93

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