CDKL5 Proband Entry
Entry ID: cp136
Systematic name: c.1196A>C
Protein name: p.Asn399Thr
Alternate name(s): p.N399T
Mutation type: missense
Domain: not specified
Pathogenicity class: variant of uncertain significance
Gender: Female
Phenotype: Rett syndrome - early-onset seizures
Other mutation: MECP2:c.1162C>T (p.P388S)
X-inactivation results: Yes - uninformative
Chromosomal abnormality: Not known
Method of testing: DHPLC, MECP2, CDKL5
Source of DNA: blood
Familial testing: not found in mother or unaffected brother
Familial X-inactivation:
Control screening: not found in 300/300 chromosomes
dbSNP ID: rs267608611
Source: Sprovieri, T., Conforti, F.L., Fiumara, A., Mazzei, R., Ungaro, C., Citrigno, L., Muglia, M., Arena, A., Quattrone, A. (2009) A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. American Journal of Medical Genetics Part A 149A:722-725. Pubmed ID: 19253388
Publication ID:
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.