CDKL5 Variant



Variant ID: cm15

Systematic name: c.-391G>T

Protein name: p.=

Alternate name(s): 5'UTR variation

Mutation type: 5'UTR variation

Domain: 5'UTR

Pathogenicity class: benign variant

dbSNP ID: rs191864898

First reference: Evans, J.C., Archer, H.L., Colley, J.P., Ravn, K., Bieber Nielsen, J., Kerr, A., Williams, E., Christodoulou, J., Gecz, J., Jardine, P.E., Wright, M.J., Pilz, D.T., Lazarou, L., Cooper, D.N., Sampson, J.R., Butler, R., Whatley, S.D., Clarke, A.J. (2005) Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 13:1113-1120. Pubmed ID: 16015284

Comments: benign variation, found in normal male controls

Variant last updated on: 2014-03-13 05:38:10

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-391G>T p.= Unaffected - normal control Male 16015284, Evans et al (2005) cp24
c.-391G>T p.= Unaffected - normal control Male 16015284, Evans et al (2005) cp25
c.-391G>T p.= Not Rett syndrome - epilepsy, Rett-like Female 22867051, Maortua et al (2012) cp322
c.-391G>T p.= Not Rett syndrome - epilepsy, Rett-like Female 22867051, Maortua et al (2012) cp323
c.-391G>T p.= Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp324
c.-391G>T p.= Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp325
c.-391G>T p.= Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp326
c.-391G>T p.= Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp327

Displaying a total number of 8 proband entries matching this variant.