Variant information

Systematic Name c.1099_1118del20
Protein name p.His367fs
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.1099_1118del20 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1255