CDKL5 Variant

Variant ID: cm165
Systematic name: c.214_216del
Protein name: p.Ile72del
Alternate name(s): p.I72del
Mutation type: in-frame insertion and/or deletion
Domain: catalytic domain
Pathogenicity class: likely 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

Comments: conserved amino acid in the kinase domain

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.214_216del p.Ile72del Not known Female 23064044, Raymond et al (2013) cp349
c.214_216del p.Ile72del Not Rett syndrome Female 25657822, Fehr S et al (2015) cp532

Displaying a total number of 2 proband entries matching this variant.