CDKL5 Variant



Variant ID: cm219

Systematic name: c.1390C>T

Protein name: p.Gln464*

Alternate name(s): p.Q464X

Mutation type: nonsense

Domain: not specified

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Epi4K Consortium and Epilepsy Phenome/Genome Project (2013) De novo mutations in epileptic encephalopathies. Nature 501:217-221. Pubmed ID: 23934111

Comments: de novo variant in a female with a clinical phenotype consistent with CDKL5 disorders; mutation listed as chrX(hg19):g.18622434C>T

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.1390C>T p.Gln464* Not Rett syndrome - infantile spasms Female 23934111, Epi4K Consortium et al (2013) cp444

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