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: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.