Variant information



Systematic Name c.1118C>G
Protein name p.Ser373*
Mutation type nonsense
Domain C-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.1118C>G p.Ser373* nonsense C-term Mutation associated with disease Female Not Known 4410