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:


Entry last updated on: 2018-06-05 13:45:42

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