Variant information



Systematic Name c.146C>G
Protein name p.Ser49*
Mutation type nonsense
Domain N-term
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.146C>G p.Ser49* nonsense N-term Mutation associated with disease Female Not Known 4423