CDKL5 Proband Entry
Entry ID: cp489
Systematic name: c.65G>T
Protein name: p.Gly22Val
Alternate name(s): p.G22V
Mutation type: missense
Domain: ATP binding region
Pathogenicity class: variant of uncertain significance
Gender: Female
Phenotype: Not Rett syndrome - intractible epilepsy, severe delay
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
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: 2018-06-05 13:45:42
Similar entries in the proband database
There are no other entries in the database with a similar genotype.