CDKL5 Variant



Variant ID: cm247

Systematic name: c.637G>A

Protein name: p.Gly213Arg

Alternate name(s): p.Gly213Arg

Mutation type: missense

Domain:

Pathogenicity class: likely pathogenic variant

dbSNP ID:

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

Comments:

Variant last updated on: 2018-06-26 10:15:43

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.637G>A p.Gly213Arg Rett syndrome - early-onset seizure Female 27187038, et al () cp502

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