Variant information



Systematic Name c.1030_1195del166insGT
Protein name p.Arg344fs
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.1030_1195del166insGT p.Arg344fs frameshift combined insertion and deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 1366