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: 2014-03-13 06:02:43

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There are no other entries in the database with a similar genotype.