CDKL5 Variant

   CSV explantation text

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

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: 2018-06-05 14:40:30

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.