Variant information



Systematic Name c.689_756del68
Protein name p.Pro230fs
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.689_756del68 p.Pro230fs frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 4478