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: 2018-06-05 14:40:30
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.