Variant information



Systematic Name c.1039_1195del157insGT
Protein name p.Lys347fs
Mutation type Frameshift combined insertion and 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.1039_1195del157insGT p.Lys347fs Frameshift combined insertion and deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 287