CDKL5 Variant
Systematic name: c.1039C>T
Protein name: p.Gln347*
Alternate name(s): p.Q347X
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608561
First reference: Artuso, R., Mencarelli, M.A., Polli, R., Sartori, S., Ariani, F., Pollazzon, M., Marozza, A., Cilio, M.R., Specchio, N., Vigevano, F., Vecchi, M., Boniver, C., Dalla Bernardina, B., Parmeggiani, A., Buoni, S., Hayek, G., Mari, F., Renieri, A., Murgia, A. (2010) Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain & Development 32:17-24. Pubmed ID: 19362436
Comments:
Variant last updated on: 2018-06-05 14:40:30
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.