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
dbSNP ID:
First reference: Directly submitted
Comments:
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.