CDKL5 Proband Entry

Entry ID: cp478

Systematic name: c.620G>A

Protein name: p.Gly207Glu

Alternate name(s): p.G207E

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - epilepsy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, Exons 2-21

Source of DNA: blood

Familial testing: not found in father or mother

Familial X-inactivation:

Control screening: No


Source: Directly submitted


Entry last updated on: 2018-06-05 13:45:42

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.620G>A p.Gly207Glu Not Rett syndrome - epileptic encephalopathy Female 23708187 Carvill et al (2013) cp428

Displaying a total number of 1 proband entries.