CDKL5 Proband Entry
Entry ID: cp24
Systematic name: c.-391G>T
Protein name: p.=
Alternate name(s): 5'UTR variation
Mutation type: 5'UTR variation
Domain: 5'UTR
Pathogenicity class: benign variant
Gender: Male
Phenotype: Not known - normal control
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: Not known
Method of testing: DHPLC, exons 1-21
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: found in 2/69 male controls
dbSNP ID: rs191864898
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.-391G>T | p.= | Not known - normal control | Male | 16015284 Evans et al (2005) | cp25 |
c.-391G>T | p.= | Not Rett syndrome - epilepsy, Rett-like | Female | 22867051 Maortua et al (2012) | cp322 |
c.-391G>T | p.= | Not Rett syndrome - epilepsy, Rett-like | Female | 22867051 Maortua et al (2012) | cp323 |
c.-391G>T | p.= | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp324 |
c.-391G>T | p.= | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp325 |
c.-391G>T | p.= | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp326 |
c.-391G>T | p.= | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp327 |
Displaying a total number of 7 proband entries.