CDKL5 Variant



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Variant ID: cm28

Systematic name: c.2152+48C>T

Protein name: p.=

Alternate name(s): intronic variation (IVS14+48C>T)

Mutation type: intronic variant

Domain: not specified

Pathogenicity class: likely benign variant

dbSNP ID: rs267608652

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: unlikely to be pathogenic, not predicted to change splicing; however, there is no empirical evidence for this

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.2152+48C>T p.= Rett syndrome - not certain Female 16015284, Evans et al (2005) cp41

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