CDKL5 Proband Entry
Entry ID: cp194
Systematic name: c.2908C>T
Protein name: p.Arg970*
Alternate name(s): p.R970X
Mutation type: nonsense
Domain: regulatory C-terminal
Pathogenicity class: variant of uncertain significance
Gender: Female
Phenotype: Rett syndrome - atypical
Other mutation:
X-inactivation results: No
Chromosomal abnormality: No
Method of testing: direct, MECP2, CDKL5 exons 2-20
Source of DNA: blood
Familial testing: not in mother, father not screened
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608665
Source: Psoni, S., Willems, P.J., Kanavakis, E., Mavrou, A., Frissyra, H., Traeger-Synodinos, J., Sofokleous, C., Makrythanassis, P., Kitsiou-Tzeli, S. (2010) A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder. European Journal of Paediatric Neurology 14:188-191. Pubmed ID: 19428276
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.