Variant information



Systematic Name c.1438C>T
Protein name p.Pro480Ser
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.1438C>T p.Pro480Ser missense C-term Polymorphism not causing disease Male Not Rett synd. 3034
2 c.1438C>T p.Pro480Ser missense C-term Polymorphism not causing disease Male Not Rett synd. 4060
3 c.1438C>T p.Pro480Ser missense C-term Polymorphism not causing disease Female Not Rett synd. 4061