Variant information



Systematic Name c.1276_*113del299ins3
Protein name p.Ser426fs
Mutation type frameshift combined insertion and deletion
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.1276_*113del299ins3 p.Ser426fs frameshift combined insertion and deletion C-term Mutation associated with disease Female Not Known 4421