Variant information



Systematic Name c.750C>T
Protein name p.Arg250Arg
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.750C>T p.Arg250Arg Silent TRD Silent polymorphism Female Not Rett synd. 1238
2 c.750C>T p.Arg250Arg Silent TRD Silent polymorphism Female Rett syndrome-Not certain 1633
3 c.750C>T p.Arg250Arg silent TRD Silent polymorphism Unknown Not Rett synd. 5191