CDKL5 Variant

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Variant ID: cm73

Systematic name: c.403+49_403+53delTTAAG

Protein name: p.=

Alternate name(s): intronic variation

Mutation type: intronic variant

Domain: serine-threonine kinase site

Pathogenicity class: likely benign variant

dbSNP ID: rs267608473

First reference: Nabbout, R., Depienne, C., Chipaux, M., Girard, B., Souville, I., Trouillard, O., Dulac, O., Chelly, J., Afenjar, A., Heron, D., Leguern, E., Beldjord, C., Bienveru, T., Bahi-Buisson, N. (2009) CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Epilepsy Research 87:25-30. Pubmed ID: 19734009

Comments: no splicing effect predicted, but not empirically tested

Variant last updated on: 2014-03-13 05:45:19

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.403+49_403+53delTTAAG p.= Not Rett syndrome - Early-onset myoclonic epilepsy Female 19734009, Nabbout et al (2009) cp108

Displaying a total number of 1 proband entries matching this variant.