CDKL5 Proband Entry
Entry ID: cp491
Systematic name: c.[=/518C>A]
Protein name: p.[=/Ala173Asp]
Alternate name(s): p.[=/A173D]
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
Gender: Male
Phenotype: Rett syndrome - Rett-like male
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: No
Method of testing: direct, 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: 2015-02-26 03:25:13
Similar entries in the proband database
There are no other entries in the database with a similar genotype.