CDKL5 Variant
Variant ID: cm16
Systematic name: c.-265C>G
Protein name: p.=
Alternate name(s): 5'UTR variation
Mutation type: 5'UTR variation
Domain: 5'UTR
Pathogenicity class: benign variant
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: benign variation, found in normal male controls
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.-265C>G | p.= | Unaffected - normal control | Male | 16015284, Evans et al (2005) | cp26 |
c.-265C>G | p.= | Unaffected - normal control | Male | 16015284, Evans et al (2005) | cp27 |
Displaying a total number of 2 proband entries matching this variant.