CDKL5 Proband Entry



Entry ID: cp482

Systematic name: c.2497-?_2713+?del

Protein name: p.Ser855Thrfs*22

Alternate name(s): p.S855fs (deletion of exon 18)

Mutation type: exonic deletion or duplication

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - epilepsy, intellectual disability

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: MLPA, exons 2-21

Source of DNA: blood

Familial testing: not found in father or mother

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Directly submitted

Comments:

Entry last updated on: 2015-02-26 03:25:13

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