CDKL5 Variant

   CSV explantation text

Variant ID: cm24
Systematic name: c.145+4AT[15]
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: catalytic domain
Pathogenicity class: benign variant

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: polymorphic [AT] repeats in intron 4

Variant last updated on: 2014-03-13 05:41:08

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.145+4AT[15] p.= Unaffected - normal control Male 16015284, Evans et al (2005) cp37

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