CDKL5 Variant



Variant ID: cm222

Systematic name: c.890_891dupTT

Protein name: p.Gln298Phefs*53

Alternate name(s): p.Q298fs

Mutation type: frameshift insertion and/or deletion

Domain: not specified

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Zhao, Y., Zhang, X., Bao, X., Zhang, Q., Zhang, J., Cao, G., Zhang, J., Li, J., Wei, L., Pan, H., Wu, X. (2014) Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC Medical Genetics 15:24. Pubmed ID: 24564546

Comments: mutation given in publication as c.891_892insTT, corrected to proper HGVS nomenclature

Variant last updated on: 2014-10-31 04:29:20

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.890_891dupTT p.Gln298Phefs*53 Rett syndrome - atypical, early onset seizures Female 24564546, Zhao et al (2014) cp447
c.890_891dupTT p.Gln298Phefs*53 Rett syndrome - atypical, early onset seizures Female 24564546, Zhao et al (2014) cp448

Displaying a total number of 2 proband entries matching this variant.