CDKL5 Variant



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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: 2014-03-13 05:38:10

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.