CDKL5 Variant
Systematic name: c.2152+48C>T
Protein name: p.=
Alternate name(s): intronic variation (IVS14+48C>T)
Mutation type: intronic variant
Domain: not specified
Pathogenicity class: likely benign variant
dbSNP ID: rs267608652
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: unlikely to be pathogenic, not predicted to change splicing; however, there is no empirical evidence for this
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.2152+48C>T | p.= | Rett syndrome - not certain | Female | 16015284, Evans et al (2005) | cp41 |
Displaying a total number of 1 proband entries matching this variant.