CDKL5 Variant



Variant ID: cm248

Systematic name: c.902_977+29del105

Protein name: p.Arg301Lysfs*24

Alternate name(s): p.Arg301Lysfs*24

Mutation type: frameshift insertion and/or deletion

Domain:

Pathogenicity class: pathogenic 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.902_977+29del105 p.Arg301Lysfs*24 Not Rett syndrome - epileptic encephalopathy Female 27187038, et al () cp503

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