CDKL5 Variant



Variant ID: cm42

Systematic name: c.[2500C>T;2995G>A]

Protein name: p.Gln834*

Alternate name(s): p.[Q834X;V999M]

Mutation type: combination/multiple mutations

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Nectoux, J., Heron, D., Tallot, M., Chelly, J., Bienvenu, T. (2006) Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clin Genet 70:29-33. Pubmed ID: 16813600

Comments: the missense variation is on the same allele as the nonsense mutation and is unlikely to be translated

Variant last updated on: 2014-03-13 05:43:05

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[2500C>T;2995G>A] p.Gln834* Rett syndrome - early seizure Female 16813600, Nectoux et al (2006) cp54

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