Variant information



Systematic Name c.[1035A>G(;)1233C>T]
Protein name p.[Lys345Lys(;)Ser411Ser]
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.[1035A>G(;)1233C>T] p.[Lys345Lys(;)Ser411Ser] silent C-term Silent polymorphism Female Rett syndrome-congenital 4595