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: 2015-02-26 03:22:52

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.