Variant information



Systematic Name c.755dupG
Protein name p.Arg253fs
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.755dupG p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 4103
2 c.755dupG p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Male Rett syndrome-male variant 4104