CDKL5 Variant

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Variant ID: cm179
Systematic name: c.405T>C
Protein name: p.=
Alternate name(s): p.D135D
Mutation type: silent
Domain: serine-threonine kinase site
Pathogenicity class: benign variant

First reference: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044

Comments: silent mutation, little predicted effect on splicing; inherited from unaffected father

Variant last updated on: 2018-06-05 14:40:30

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.405T>C p.= Not Rett syndrome - epileptic encephalopathy Unknown 23064044, Raymond et al (2013) cp369
c.405T>C p.= Unaffected - unaffected family member Male 23064044, Raymond et al (2013) cp370

Displaying a total number of 2 proband entries matching this variant.