Variant information

Systematic Name c.1271_1416del146
Protein name p.Leu424fs
Mutation type Frameshift insertion or 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.1271_1416del146 p.Leu424fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1662