Variant information



Systematic Name c.673C>A
Protein name p.Pro225Thr
Mutation type missense
Domain TRD
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.673C>A p.Pro225Thr missense TRD Mutation associated with disease Female Not Known 4474