CDKL5 Variant

Variant ID: cm227

Systematic name: c.2530delC

Protein name: p.His844Ilefs*19

Alternate name(s): p.H844IfsX19, p.H844fs

Mutation type: frameshift insertion and/or deletion

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant


First reference: Directly submitted


Variant last updated on: 2018-06-05 14:40:30

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2530delC p.His844Ilefs*19 Rett syndrome - classical Female Directly submitted cp464

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