CDKL5 Proband Entry

Entry ID: cp464

Systematic name: c.2530delC

Protein name: p.His844Ilefs*19

Alternate name(s): p.H844IfsX19, p.H844fs

Mutation type: frameshift insertion and/or deletion

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - classical

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, exons 2-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No


Source: Directly submitted


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

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