CDKL5 Proband Entry

Entry ID: cp491

Systematic name: c.[=/518C>A]

Protein name: p.[=/Ala173Asp]

Alternate name(s): p.[=/A173D]

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Male

Phenotype: Rett syndrome - Rett-like male

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: No

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: 2015-02-26 03:25:13

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