CDKL5 Variant



Variant ID: cm253

Systematic name: c.146-98A>G

Protein name: p.=

Alternate name(s): p.=

Mutation type: silent

Domain:

Pathogenicity class: benign variant

dbSNP ID:

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

Comments:

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
[c.145+17A>G;c.146-98A>G;c.404-57T>C;c.2153-47_2153-38del10; c.3003C>T;c.3084G>A p.= Not Rett syndrome - West syndrome Male 27187038, et al () cp501

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