CDKL5 Variant
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
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 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.