Variant information



Systematic Name c.1451G>C
Protein name p.Arg484Thr
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.1451G>C p.Arg484Thr missense C-term Polymorphism not causing disease Male Not Rett synd. 4047