CDKL5 Variant



Variant ID: cm107

Systematic name: c.2854C>T

Protein name: p.Arg952*

Alternate name(s): p.R952X

Mutation type: nonsense

Domain: regulatory C-terminal

Pathogenicity class: benign variant

dbSNP ID: rs202153551

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: in exon 20, affecting only the transcript lowly expressed; found in multiple normal females in control population and normal family members

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.2854C>T p.Arg952* Not Rett syndrome - infantile intractable epilepsy Female 21775177, Intusoma et al (2011) cp206
c.2854C>T p.Arg952* Unaffected - unaffected family member Female 21775177, Intusoma et al (2011) cp207
c.2854C>T p.Arg952* Not Rett syndrome - mild mental retardation Female 21775177, Intusoma et al (2011) cp208
c.2854C>T p.Arg952* Unaffected - unaffected family member Female 21775177, Intusoma et al (2011) cp209
c.2854C>T p.Arg952* Unaffected - normal control Female 21775177, Intusoma et al (2011) cp210
c.2854C>T p.Arg952* Unaffected - normal control Female 21775177, Intusoma et al (2011) cp211
c.2854C>T p.Arg952* Unaffected - normal control Female 21775177, Intusoma et al (2011) cp212
c.2854C>T p.Arg952* Unaffected - normal control Female 21775177, Intusoma et al (2011) cp213
c.2854C>T p.Arg952* Unaffected - normal control Female 21775177, Intusoma et al (2011) cp214
c.2854C>T p.Arg952* Unaffected - normal control Female 21775177, Intusoma et al (2011) cp215

Displaying a total number of 10 proband entries matching this variant.