CDKL5 Proband Entry
Entry ID: cp494
Systematic name: c.[2372A>C];[2372A>C]
Protein name: p.[Gln791Pro];[Gln791Pro]
Alternate name(s): p.[Q791P];[Q791P]
Mutation type: missense
Domain: regulatory C-terminal
Pathogenicity class: benign variant
Gender: Female
Phenotype: Rett syndrome - early-onset seizures
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: rs35478150
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.