Variant information

Systematic Name c.764_765ins8
Protein name p.Arg255fs
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.764_765ins8 p.Arg255fs Frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 1671