Variant information



Systematic Name c.1436C>T
Protein name p.Thr479Met
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.1436C>T p.Thr479Met missense C-term Polymorphism not causing disease Female Rett syndrome-NK 3949
2 c.1436C>T p.Thr479Met missense C-term Polymorphism not causing disease Male Not Rett synd. 3950
3 c.1436C>T p.Thr479Met missense C-term Polymorphism not causing disease Unknown Not Rett synd. 3951