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
dbSNP ID:
Source: Directly submitted
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
There are no other entries in the database with a similar genotype.