CDKL5 Proband Entry

Entry ID: cp34

Systematic name: c.1400A>G

Protein name: p.His467Arg

Alternate name(s): p.H467R

Mutation type: missense

Domain: not specified

Pathogenicity class: likely benign variant

Gender: Female

Phenotype: Rett syndrome - not certain

Other mutation:

X-inactivation results: Yes - 58:42

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 1-21

Source of DNA: blood

Familial testing: in unaffected mother

Familial X-inactivation: carrier mother with balanced X-inactivation

Control screening: No


Source: 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

Publication ID:


Entry last updated on: 2018-06-05 13:45:42

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1400A>G p.His467Arg Not known - unaffected family member Female 16015284 Evans et al (2005) cp35

Displaying a total number of 1 proband entries.