CDKL5 Proband Entry
Entry ID: cp206
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 Rett syndrome - infantile intractable epilepsy
Other mutation:
X-inactivation results: Yes
Chromosomal abnormality: No
Method of testing: direct, CDKL5 Exon 2-21
Source of DNA: blood
Familial testing: found in mother with mild mental retardation and normal half-sister and grandmother
Familial X-inactivation: random in mother and half sister
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: III:5
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
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 |
c.2854C>T | p.Arg952* | Not known - normal control | Female | 21775177 Intusoma et al (2011) | cp215 |
Displaying a total number of 9 proband entries.