CDKL5 Variant
Systematic name: c.-189C>T
Protein name: p.=
Alternate name(s): 5'UTR variation
Mutation type: 5'UTR variation
Domain: 5'UTR
Pathogenicity class: variant of uncertain significance
dbSNP ID:
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: no parental testing, unreported SNP
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.-189C>T | p.= | Rett syndrome - not certain | Female | 16015284, Evans et al (2005) | cp28 |
Displaying a total number of 1 proband entries matching this variant.