CDKL5 Variant

Variant ID: cm169

Systematic name: c.1247_1248del

Protein name: p.Glu416Valfs*2

Alternate name(s): p.E416VfsX2

Mutation type: frameshift insertion and/or deletion

Domain: not specified

Pathogenicity class: pathogenic variant


First reference: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044


Variant last updated on: 2014-03-13 05:52:46

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1247_1248del p.Glu416Valfs*2 Not known Female 23064044, Raymond et al (2013) cp354

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