Variant information



Systematic Name c.820_1153del334ins67
Protein name uncertain
Mutation type combined in-frame insertion and deletion
Domain TRD, 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.820_1153del334ins67 uncertain combined in-frame insertion and deletion TRD, C-term Mutation associated with disease Female Rett syndrome-not certain 5252