Variant information



Systematic Name c.[1024_1025insAG;1029delG;1155_1209del55]
Protein name p.Proro342_Proro403delins44
Mutation type combined in-frame insertion and deletion
Domain 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.[1024_1025insAG;1029delG;1155_1209del55] p.Proro342_Proro403delins44 combined in-frame insertion and deletion C-term Mutation associated with disease Female Rett syndrome-not certain 5246