CDKL5 Variant
Variant ID: cm19
Systematic name: c.2376+1G>C
Protein name: p.Lys760Tyrfs*10
Alternate name(s): p.K760fs (IVS16+1G>C)
Mutation type: splicing variant
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608656
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 16 skipping, r.2277_2376del
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.2376+1G>C | p.Lys760Tyrfs*10 | Not Rett syndrome - West syndrome | Female | 16015284, Evans et al (2005) | cp30 |
Displaying a total number of 1 proband entries matching this variant.