CDKL5 Variant

Variant ID: cm25
Systematic name: c.283-43G>A
Protein name: p.=
Alternate name(s): intronic variation (IVS5-43G>A)
Mutation type: intronic variant
Domain: catalytic domain
Pathogenicity class: likely benign variant
dbSNP ID: rs267608448

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.283-43G>A p.= Rett syndrome - not certain Female 16015284, Evans et al (2005) cp38

Displaying a total number of 1 proband entries matching this variant.