CDKL5 Proband Entry
Entry ID: cp225
Systematic name: c.473G>C
Protein name: p.Arg158Pro
Alternate name(s): p.R158P
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - epileptic encephalopathy
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: Not known
Method of testing: direct, CDKL5
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Melani, F., Mei, D., Pisano, T., Savasta, S., Franzoni, E., Ferrari, A.R., Marini, C., Guerrini, R. (2011) CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Developmental Medicine & Child Neurology 53:354-360. Pubmed ID: 21309761
Publication ID: 1
Comments:
Entry last updated on: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.