CDKL5 Proband Entry



Entry ID: cp215

Systematic name: c.2854C>T

Protein name: p.Arg952*

Alternate name(s): p.R952X

Mutation type: nonsense

Domain: regulatory C-terminal

Pathogenicity class: benign variant

Gender: Female

Phenotype: Not known - normal control

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: found in 6/713 (0.8%) chromosomes

dbSNP ID: rs202153551

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: 2014-05-09 06:12:32

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2854C>T p.Arg952* Not Rett syndrome - infantile intractable epilepsy Female 21775177 Intusoma et al (2011) cp206
c.2854C>T p.Arg952* Not known - unaffected family member Female 21775177 Intusoma et al (2011) cp207
c.2854C>T p.Arg952* Not Rett syndrome - mild mental retardation Female 21775177 Intusoma et al (2011) cp208
c.2854C>T p.Arg952* Not known - unaffected family member Female 21775177 Intusoma et al (2011) cp209
c.2854C>T p.Arg952* Not known - normal control Female 21775177 Intusoma et al (2011) cp210
c.2854C>T p.Arg952* Not known - normal control Female 21775177 Intusoma et al (2011) cp211
c.2854C>T p.Arg952* Not known - normal control Female 21775177 Intusoma et al (2011) cp212
c.2854C>T p.Arg952* Not known - normal control Female 21775177 Intusoma et al (2011) cp213
c.2854C>T p.Arg952* Not known - normal control Female 21775177 Intusoma et al (2011) cp214

Displaying a total number of 9 proband entries.