Variant information



Systematic Name c.1196C>T
Protein name p.Pro399Leu
Mutation type Missense
Domain C-term
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.1196C>T p.Pro399Leu Missense C-term Polymorphism not causing disease Male Not Rett synd. 1016
2 c.1196C>T p.Pro399Leu Missense C-term Polymorphism not causing disease Female Rett syndrome-Not certain 1536
3 c.1196C>T p.Pro399Leu Missense C-term Polymorphism not causing disease Male Not Rett synd. 1537
4 c.1196C>T p.Pro399Leu missense C-term Polymorphism not causing disease Unknown Not Rett synd. 5214