CDKL5 Variant

   CSV explantation text

Variant ID: cm18

Systematic name: c.464-2A>G

Protein name: p.Gly155Alafs*43

Alternate name(s): p.G155fs (IVS7-2A>G)

Mutation type: splicing variant

Domain: catalytic domain

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608480

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: leads to exon 8 skipping, r.464_554del

Variant last updated on: 2018-06-26 10:15:43

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.464-2A>G p.Gly155Alafs*43 Not Rett syndrome - severe epileptic encephalopathy Female 16015284, Evans et al (2005) cp29
c.464-2A>G p.Gly155Alafs*43 Not Rett syndrome - early-onset epileptic encephalopathy Male 23708187, Carvill et al (2013) cp422

Displaying a total number of 2 proband entries matching this variant.