Variant information



Systematic Name c.871_1044del
Protein name p.Ile293_Ser350del
Mutation type in-frame insertion or deletion
Domain TRD, 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.871_1044del p.Ile293_Ser350del in-frame insertion or deletion TRD, C-term Mutation associated with disease Female Rett syndrome-atypical 4879