CDKL5 Variant
Variant ID: cm199
Systematic name: c.62A>G
Protein name: p.Glu21Gly
Alternate name(s): p.E21G
Mutation type: missense
Domain: ATP binding region
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Mirzaa, G.M., Paciorkowski, A.R., Marsh, E.D., Berry-Kravis, E.M., Medne, L., Grix, A., Wirrell, E.C., Powell, B.R., Nickels, K.C., Burton, B., Paras, A., Kim, K., Chung, W., Dobyns, W.B., Das, S. (2013) CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatric Neurology 48:367-377. Pubmed ID: 23583054
Comments: conserved amino acid, SIFT, polyphen2, mutation taster predictions all deleterious
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.62A>G | p.Glu21Gly | Not Rett syndrome - early-onset epilepsy | Male | 23583054, Mirzaa et al (2013) | cp416 |
Displaying a total number of 1 proband entries matching this variant.