CDKL5 Variant
Variant ID: cm204
Systematic name: c.549dupA
Protein name: p.Leu184Thrfs*22
Alternate name(s): p.L184fs
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Ermel, E.L., Carneiro, L.C., de Souza, C.F.M., de Souza Crippa, A.C., Sanseverino, M.T.V., Raskin, S. (2013) Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients. Arq Neuropsiquiatr 71:414-415. Pubmed ID: 23828526
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.549dupA | p.Leu184Thrfs*22 | Not Rett syndrome - early-onset seizures | Female | 23828526, Ermel et al (2013) | cp420 |
c.549dupA | p.Leu184Thrfs*22 | Not known | Female | Directly submitted | cp469 |
Displaying a total number of 2 proband entries matching this variant.