Variant information



Systematic Name c.854dupA
Protein name p.Lys286fs
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.854dupA p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 1758