CDKL5 Proband Entry



Entry ID: cp32

Systematic name: c.1330C>T

Protein name: p.Arg444Cys

Alternate name(s): p.R444C

Mutation type: missense

Domain: not specified

Pathogenicity class: benign variant

Gender: Female

Phenotype: Rett syndrome - not certain

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 1-21

Source of DNA: blood

Familial testing: in unaffected father

Familial X-inactivation:

Control screening: No

dbSNP ID: rs61753977

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:

Comments:

Entry last updated on: 2014-03-13 06:05:23

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1330C>T p.Arg444Cys Not known - unaffected family member Male 16015284 Evans et al (2005) cp33
c.1330C>T p.Arg444Cys Not Rett syndrome - epileptic encephalopathy Unknown 23064044 Raymond et al (2013) cp363
c.1330C>T p.Arg444Cys Not known - unaffected family member Female 23064044 Raymond et al (2013) cp364

Displaying a total number of 3 proband entries.