CDKL5 Variant
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
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 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.