CDKL5 Variant
Variant ID: cm231
Systematic name: c.65dupG
Protein name: p.Ala23Serfs*7
Alternate name(s): p.A23fs
Mutation type: frameshift insertion and/or deletion
Domain: ATP binding region
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608420
First reference: Directly submitted
Comments:
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.65dupG | p.Ala23Serfs*7 | Not Rett syndrome - epileptic encephalopathy | Female | 22264704, Moseley et al (2012) | cp470 |
Displaying a total number of 1 proband entries matching this variant.