CDKL5 Variant



Variant ID: cm26

Systematic name: c.464-40_464-37delCTTT

Protein name: p.=

Alternate name(s): intronic variation (IVS7-40_-37del)

Mutation type: intronic variant

Domain: catalytic domain

Pathogenicity class: likely benign variant

dbSNP ID: rs267608481

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.464-40_464-37delCTTT p.= Rett syndrome - not certain Female 16015284, Evans et al (2005) cp39

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