Variant information



Systematic Name c.807_*125del780
Protein name p.Arg270_Ser486delinsGln
Mutation type In-frame insertion or deletion
Domain TRD-NLS
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.807_*125del780 p.Arg270_Ser486delinsGln In-frame insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 1722