Variant information



Systematic Name c.[528C>G; 897C>T]
Protein name p.[Pro176Pro; Thr299Thr]
Mutation type silent
Domain inter-domain region
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[528C>G; 897C>T] p.[Pro176Pro; Thr299Thr] silent inter-domain region Silent polymorphism Male Not Rett synd. 3021