Variant information



Systematic Name c.686C>A
Protein name p.Ser229*
Mutation type nonsense
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.686C>A p.Ser229* nonsense TRD Mutation associated with disease Female Not Known 4475