Variant information



Systematic Name c.898_901del
Protein name p.Val300fs
Mutation type frameshift insertion or deletion
Domain TRD
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.898_901del p.Val300fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 2890