CDKL5 Proband Entry
Entry ID: cp224
Systematic name: c.1648C>T
Protein name: p.Arg550*
Alternate name(s): p.R550X
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - early-onset seizures and mental retardation
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: not specified, MECP2 negative
Source of DNA: not certain
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608643
Source: Rademacher, N., Hambrock, M., Fischer, U., Moser, B., Ceulemans, B., Lieb, W., Boor, R., Stefanova, I., Gillessen-Kaesbach, G., Runge, C., Korenke, G.C., Spranger, S., Laccone, F., Tzschach, A., Kalscheuer, V.M. (2011) Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics 12:165-167. Pubmed ID: 21318334
Publication ID: patient 5
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.1648C>T | p.Arg550* | Rett syndrome - early-onset seizure | Female | 18063413 Pintaudi et al (2008) | cp62 |
c.1648C>T | p.Arg550* | Rett syndrome - atypical | Female | 22678952 Bahi-Buisson et al (2012) | cp458 |
c.1648C>T | p.Arg550* | Not Rett syndrome | Female | 27599155 Lilles S et al (2016) | cp583 |
Displaying a total number of 3 proband entries.