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
dbSNP ID:
Source: Directly submitted
Comments:
Entry last updated on: 2015-02-26 03:25:13
Similar entries in the proband database
There are no other entries in the database with a similar genotype.