CDKL5 Proband Entry

Entry ID: cp487

Systematic name: c.593G>A

Protein name: p.Gly198Asp

Alternate name(s): p.G198D

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: variant of uncertain significance

Gender: Female

Phenotype: Not Rett syndrome - Rett-like

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, exons 2-21

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No


Source: Directly submitted


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

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