Variant information



Systematic Name c.763_1383del621ins15
Protein name p.Arg255_Ile461delins5
Mutation type in-frame combined insertion and deletion
Domain TRD, TRD-NLS, C-term
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.763_1383del621ins15 p.Arg255_Ile461delins5 in-frame combined insertion and deletion TRD, TRD-NLS, C-term Mutation associated with disease Female Not Known 4481