Variant information



Systematic Name c.760A>T
Protein name p.Lys254*
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.760A>T p.Lys254* Nonsense TRD Mutation associated with disease Female Not Known 1790