Variant information



Systematic Name c.748dupC
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.748dupC p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 33
2 c.748dupC p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1866