CDKL5 Variant

   CSV explantation text

Variant ID: cm218
Systematic name: c.638G>A
Protein name: p.Gly213Glu
Alternate name(s): p.G213E
Mutation type: missense
Domain: catalytic domain
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 male with infantile spasms, not in dbSNP or ESP6500; in silico predictions: alignGVGD, SIFT, MutationTaster, Polyphen2 all pathogenic; mutation listed as chrX(hg19):g.18606157G>A

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.638G>A p.Gly213Glu Not Rett syndrome - infantile spasms Male 23934111, Epi4K Consortium et al (2013) cp443

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