CDKL5 Proband Entry



Entry ID: cp216

Systematic name: c.1767C>T

Protein name: p.=

Alternate name(s): p.H589H

Mutation type: silent

Domain: not specified

Pathogenicity class: benign variant

Gender: Female

Phenotype: Not Rett syndrome - infantile intractable epilepsy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, CDKL5 Exon 2-21

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608645

Source: Intusoma, U., Hayeeduereh, F., Plong-On, O., Sripo, T., Vasiknanonte, P., Janjindamai, S., Lusawat, A., Thammongkol, S., Visudtibhan, A., Limprasert, P. (2011) Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. European Journal of Paediatric Neurology 15:432-438. Pubmed ID: 21775177

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:10:47

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cDNA name Protein name Phenotype Gender Reference Proband ID
c.[1767C>T(;)2995G>A] p.[=(;)Val999Met] Rett syndrome - atypical (early seizure variant) Female 23242510 Das et al (2013) cp439

Displaying a total number of 1 proband entries.