Variant information



Systematic Name c.[=/657-?_1316+?del]
Protein name p.[=/?]
Mutation type in-frame 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.[=/657-?_1316+?del] p.[=/?] in-frame insertion or deletion TRD Mutation associated with disease Male Rett syndrome-male variant 4807