Variant information

Systematic Name c.56dupA
Protein name p.Leu21fs
Mutation type frameshift insertion or deletion
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.56dupA p.Leu21fs frameshift insertion or deletion N-term Mutation associated with disease Female Not Known 4470