Variant information



Systematic Name c.1096_1201del106
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.1096_1201del106 p.His366fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 1368