CDKL5 Variant



Variant ID: cm223

Systematic name: c.2360delA

Protein name: p.Lys787Argfs*16

Alternate name(s): p.K787fs

Mutation type: frameshift insertion and/or deletion

Domain: regulatory C-terminal

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:

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.2360delA p.Lys787Argfs*16 Not Rett syndrome - early-onset epileptic encephalopathy Female 24564546, Zhao et al (2014) cp450

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