CDKL5 Variant



Variant ID: cm108

Systematic name: c.1767C>T

Protein name: p.=

Alternate name(s): p.H589H

Mutation type: silent

Domain: not specified

Pathogenicity class: benign variant

dbSNP ID: rs267608645

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:

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.1767C>T p.= Not Rett syndrome - infantile intractable epilepsy Female 21775177, Intusoma et al (2011) cp216
c.[1767C>T(;)2995G>A] p.[=(;)Val999Met] Rett syndrome - atypical (early seizure variant) Female 23242510, Das et al (2013) cp439

Displaying a total number of 2 proband entries matching this variant.