Variant information



Systematic Name c.753C>T
Protein name p.Pro251Pro
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.753C>T p.Pro251Pro silent TRD Silent polymorphism Female Rett syndrome-classical 2994
2 c.753C>T p.Pro251Pro silent TRD Silent polymorphism Female Rett syndrome-not certain 4753
3 c.753C>T p.Pro251Pro silent TRD Silent polymorphism Female Rett syndrome-not certain 4754