Variant information



Systematic Name c.1161_1205del45insA
Protein name p.Pro389*
Mutation type Frameshift combined 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.1161_1205del45insA p.Pro389* Frameshift combined insertion and deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1856