CDKL5 Proband Entry
Entry ID: cp36
Systematic name: c.145+4AT[13]
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: catalytic domain
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 3/37 male controls
dbSNP ID:
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: 2014-05-09 06:12:32
Similar entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.145+4AT[13] | p.= | Rett syndrome - not certain | Female | Roche Martinez et al (2012) | cp385 |
c.145+4AT[13] | p.= | Rett syndrome - not certain | Female | Roche Martinez et al (2012) | cp386 |
c.145+4AT[13] | p.= | Rett syndrome - not certain | Female | Roche Martinez et al (2012) | cp387 |
c.145+4AT[13] | p.= | Not known - non-Rett syndrome control | Female | Roche Martinez et al (2012) | cp388 |
c.145+4AT[13] | p.= | Not known - non-Rett syndrome control | Female | Roche Martinez et al (2012) | cp389 |
Displaying a total number of 5 proband entries.