Variant information



Systematic Name c.736_743delinsGTG
Protein name p.Met246fs
Mutation type frameshift combined insertion and deletion
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.736_743delinsGTG p.Met246fs frameshift combined insertion and deletion TRD Mutation associated with disease Female Not Known 4479