Variant information



Systematic Name c.1167_1200del34
Protein name p.Pro390fs
Mutation type Frameshift insertion or 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.1167_1200del34 p.Pro390fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1259