Variant information



Systematic Name c.[819G>T(;)1161C>T]
Protein name p.[Gly273Gly(;)Pro387Pro]
Mutation type Silent
Domain TRD, C-term
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[819G>T(;)1161C>T] p.[Gly273Gly(;)Pro387Pro] Silent TRD, C-term Silent polymorphism Female Rett syndrome-Atypical 441