CDKL5 Variant

Variant ID: cm33
Systematic name: c.2363_2367delAGAAA
Protein name: p.Lys788Ilefs*11
Alternate name(s): p.K788fs
Mutation type: frameshift insertion and/or deletion
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608655

First reference: Archer, H.L., Evans, J., Edwards, S., Colley, J., Newbury-Ecob, R., O'Callaghan, F., Huyton, M., O'Regan, M., Tolmie, J., Sampson, J., Clarke, A., Osborne, J. (2006) CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43:729-734. Pubmed ID: 16611748


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.2363_2367delAGAAA p.Lys788Ilefs*11 Not Rett syndrome - X-linked West syndrome/autism Female 16611748, Archer et al (2006) cp46

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