CDKL5 Proband Entry
Entry ID: cp583
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
Other mutation:
X-inactivation results: Not known
Chromosomal abnormality: Not known
Method of testing: Not stated
Source of DNA:
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608643
Source: Lilles, S. Talvik, I. Noormets, K. Vaher, U. Ounap, K. Reimand, T. Sander, V. Ilves, P. Talvik, T. (2016) CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature. Neuropediatrics. 47(6):361-367. Pubmed ID: 27599155
Publication ID: patient 4
Comments:
Entry last updated on: 2019-10-10 11:03:23
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* | Not Rett syndrome - early-onset seizures and mental retardation | Female | 21318334 Rademacher et al (2011) | cp224 |
c.1648C>T | p.Arg550* | Rett syndrome - atypical | Female | 22678952 Bahi-Buisson et al (2012) | cp458 |
Displaying a total number of 3 proband entries.