CDKL5 Variant



   CSV explantation text


Variant ID: cm249

Systematic name: c.915T>C

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.915T>C p.= Not Rett syndrome - epileptic encephalopathy Female 27187038, et al () cp504

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