Variant information



Systematic Name c.[377+28A>G(;)1014C>T]
Protein name "intronic variation, p.Thr338Thr"
Mutation type intronic variation, silent
Domain intronic, 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.[377+28A>G(;)1014C>T] "intronic variation, p.Thr338Thr" intronic variation, silent intronic, C-term Silent polymorphism Female Rett syndrome-Classical 4334