Variant information

Systematic Name c.[1157_1197del41; 1232_1240del9]
Protein name p.Leu386fs
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.[1157_1197del41; 1232_1240del9] p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 384