CDKL5 Variant



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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: 2014-10-31 04:28:54

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.