CDKL5 Variant
Systematic name: c.283-99C>A
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: catalytic domain
Pathogenicity class: benign variant
dbSNP ID: rs4825261
First reference: Intusoma, U., Hayeeduereh, F., Plong-On, O., Sripo, T., Vasiknanonte, P., Janjindamai, S., Lusawat, A., Thammongkol, S., Visudtibhan, A., Limprasert, P. (2011) Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. European Journal of Paediatric Neurology 15:432-438. Pubmed ID: 21775177
Comments: common SNP
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.283-99C>A | p.= | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177, Intusoma et al (2011) | cp217 |
Displaying a total number of 1 proband entries matching this variant.