CDKL5 Variant



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Variant ID: cm109

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: 2014-03-13 05:51:47

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.