Variant information



Systematic Name c.753dupC
Protein name p.Gly252fs
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.753dupC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 369
2 c.753dupC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Male Not Rett synd. 1199
3 c.753dupC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 1200
4 c.753dupC p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 2598