CDKL5 Variant
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
Comments:
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.