CDKL5 Variant

   CSV explantation text

Variant ID: cm252

Systematic name: c.100-73C>T

Protein name: p.=

Alternate name(s): p.=

Mutation type: silent


Pathogenicity class: benign variant


First reference: () . :. Pubmed ID: 27187038


Variant last updated on: 2017-04-28 11:54:28

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
[c.100-73C>T;c.145+17A>G; c.146-98A>G; c.404-57T>C; c.2153-47_2153-38del10; c.30 p.= Not Rett syndrome - epileptic encephalopathy Male 27187038, et al () cp500

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