CDKL5 Variant

   CSV explantation text

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


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.