Variant information



Systematic Name c.906_1138del233insAC
Protein name p.Ile303_Val380delinsLeu
Mutation type in-frame combined 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.906_1138del233insAC p.Ile303_Val380delinsLeu in-frame combined insertion and deletion TRD, C-term Mutation associated with disease Female Rett syndrome-not certain 3620