Variant information

Systematic Name c.1150_1192del43
Protein name p.Pro384fs
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.1150_1192del43 p.Pro384fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 257