Variant information



Systematic Name c.1097_1203del107
Protein name p.His366fs
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.1097_1203del107 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2098