CDKL5 Proband Entry

Entry ID: cp493

Systematic name: c.[=/2420_2430del]

Protein name: p.[=/Ser807Cysfs*2]

Alternate name(s): p.[=/S807CfsX2]

Mutation type: frameshift insertion and/or deletion

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome - developmental delay

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: No

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: 2015-02-26 03:25:13

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