CDKL5 Variant
Systematic name: c.1039C>T
Protein name: p.Gln347*
Alternate name(s):
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Fehr S, Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822
Comments:
Variant last updated on: 2018-10-23 12:21:11
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.1039C>T | p.Gln347* | Not Rett syndrome - epileptic encephalopathy | Female | 21770923, Liang et al (2011) | cp290 |
c.1039C>T | p.Gln347* | Not Rett syndrome - epileptic encephalopathy | Female | 21770923, Liang et al (2011) | cp290 |
c.1039C>T | p.Gln347* | Rett syndrome - early-onset seizure | Female | 19362436, Artuso et al (2010) | cp461 |
c.1039C>T | p.Gln347* | Rett syndrome - early-onset seizure | Female | 19362436, Artuso et al (2010) | cp461 |
c.1039C>T | p.Gln347* | Not Rett syndrome | Female | 25657822, Fehr S et al (2015) | cp514 |
c.1039C>T | p.Gln347* | Not Rett syndrome | Female | 25657822, Fehr S et al (2015) | cp514 |
Displaying a total number of 6 proband entries matching this variant.