CDKL5 Variant
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
dbSNP ID: rs267608611
First reference: 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
Comments: in silico predictions: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = benign, AlignGVGD = benign (C0)
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.1196A>C | p.Asn399Thr | Rett syndrome - early-onset seizures | Female | 19253388, Sprovieri et al (2009) | cp136 |
Displaying a total number of 1 proband entries matching this variant.