CDKL5 Variant



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Variant ID: cm198

Systematic name: c.65-?_99+?del

Protein name: p.(Ala23Asnfs*3)

Alternate name(s): p.A23fs (deletion of exon 3)

Mutation type: exonic deletion or duplication

Domain: ATP binding region

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Mirzaa, G.M., Paciorkowski, A.R., Marsh, E.D., Berry-Kravis, E.M., Medne, L., Grix, A., Wirrell, E.C., Powell, B.R., Nickels, K.C., Burton, B., Paras, A., Kim, K., Chung, W., Dobyns, W.B., Das, S. (2013) CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatric Neurology 48:367-377. Pubmed ID: 23583054

Comments: predicted to cause shift in reading-frame leading to early truncation, exact protein change not verified

Variant last updated on: 2014-03-13 05:52:46

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.65-?_99+?del p.(Ala23Asnfs*3) Not Rett syndrome - early-onset epilepsy Male 23583054, Mirzaa et al (2013) cp415

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