CDKL5 Variant

Variant ID: cm217

Systematic name: c.379C>T

Protein name: p.His127Tyr

Alternate name(s): p.H127Y

Mutation type: missense

Domain: serine-threonine kinase site

Pathogenicity class: likely 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 Lennox-Gastaut syndrome patient, not in dbSNP or ESP6500; in silico predictions: alignGVGD, SIFT, MutationTaster, Polyphen2 all pathogenic; variant listed as chrX(hg19):g.18598064C>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.379C>T p.His127Tyr Not Rett syndrome - Lennox-Gastaut syndrome Unknown 23934111, Epi4K Consortium et al (2013) cp442

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