CDKL5 Proband Entry



Entry ID: cp39

Systematic name: c.464-40_464-37delCTTT

Protein name: p.=

Alternate name(s): intronic variation (IVS7-40_-37del)

Mutation type: intronic variant

Domain: catalytic domain

Pathogenicity class: likely 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: rs267608481

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

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