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: 2018-06-05 13:45:42
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.