Variant information



Systematic Name c.[1038_1119del82; 1169_1339del171ins137]
Protein name p.Ser346fs
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.[1038_1119del82; 1169_1339del171ins137] p.Ser346fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 37