CDKL5 Variant
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: 2018-06-05 14:40:30
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 |
c.464-2A>G | p.Gly155Alafs*43 | Not Rett syndrome | Male | 25657822, Fehr S et al (2015) | cp558 |
Displaying a total number of 3 proband entries matching this variant.