Variant information



Systematic Name c.1061G>A
Protein name p.Arg354His
Mutation type Missense
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1061G>A p.Arg354His Missense C-term Unknown Female Not Rett synd. 2207