Variant information



Systematic Name c.748_749insT
Protein name p.Arg250fs
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.748_749insT p.Arg250fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3267