Variant information



Systematic Name c.984C>A
Protein name p.Leu328Leu
Mutation type silent
Domain 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.984C>A p.Leu328Leu silent C-term Silent polymorphism Male Not Known 3911
2 c.984C>A p.Leu328Leu silent C-term Silent polymorphism Unknown Not Rett synd. 5206