CDKL5 Proband Entry
Entry ID: cp23
Systematic name: c.-440G>T
Protein name: p.=
Alternate name(s): 5'UTR variation
Mutation type: 5'UTR variation
Domain: 5'UTR
Pathogenicity class: variant of uncertain significance
Gender: Male
Phenotype: Rett syndrome - Rett-like male
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: not found in 69/69 chromosomes
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: 2018-06-05 13:45:42
Similar entries in the proband database
There are no other entries in the database with a similar genotype.