CDKL5 Proband Entry

Entry ID: cp584

Systematic name: c.530A>G

Protein name: p.Tyr177Cys

Alternate name(s):

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: variant of uncertain significance

Gender: Female

Phenotype: Not Rett syndrome

Other mutation:

X-inactivation results: Yes - random X inactivation

Chromosomal abnormality: Not known

Method of testing: Not stated

Source of DNA:

Familial testing: No

Familial X-inactivation:

Control screening: No


Source: Christianto, A. Katayama, S. Kameshita, I. Inazu, T. (2016) A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome . Clin Chim Acta 459:132-136. Pubmed ID: 27265524

Publication ID:


Entry last updated on: 2019-10-10 11:03:23

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