Variant information

Systematic Name c.[1103_1172del; 1185_1191del]
Protein name p.His368fs
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.[1103_1172del; 1185_1191del] p.His368fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 852