CDKL5 Variant



Variant ID: cm195

Systematic name: c.513C>A

Protein name: p.Tyr171*

Alternate name(s): p.Y171X

Mutation type: nonsense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608490

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: early truncation, partial loss the phophorylation site

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.513C>A p.Tyr171* Not Rett syndrome - early-onset epilepsy Male 23583054, Mirzaa et al (2013) cp411

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