CDKL5 Proband Entry
Entry ID: cp40
Systematic name: c.463+22T>C
Protein name: p.=
Alternate name(s): intronic variation (IVS7+22T>C)
Mutation type: intronic variant
Domain: catalytic domain
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: No
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608478
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.463+22T>C | p.= | Rett syndrome - not certain | Female | 20397747 White et al (2010) | cp192 |
c.463+22T>C | p.= | Not known - unaffected family member | Female | 20397747 White et al (2010) | cp193 |
Displaying a total number of 2 proband entries.