Variant information



Systematic Name c.1157_1191del35
Protein name p.Leu386fs
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.1157_1191del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1742
2 c.1157_1191del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1754
3 c.1157_1191del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1776
4 c.1157_1191del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1780
5 c.1157_1191del35 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1814