CDKL5 Variant



Variant ID: cm27

Systematic name: c.463+22T>C

Protein name: p.=

Alternate name(s): intronic variation (IVS7+22T>C)

Mutation type: intronic variant

Domain: catalytic domain

Pathogenicity class: benign variant

dbSNP ID: rs267608478

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: reported in multiple unaffected family members

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.463+22T>C p.= Rett syndrome - not certain Female 16015284, Evans et al (2005) cp40
c.463+22T>C p.= Rett syndrome - not certain Female 20397747, White et al (2010) cp192
c.463+22T>C p.= Unaffected - unaffected family member Female 20397747, White et al (2010) cp193

Displaying a total number of 3 proband entries matching this variant.