Variant information



Systematic Name c.752C>T
Protein name p.Pro251Leu
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.752C>T p.Pro251Leu Missense TRD Polymorphism not causing disease Male Not Rett synd. 149