Variant information



Systematic Name c.1157_1192del36
Protein name p.Leu386_Asp398delinsHis
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1157_1192del36 p.Leu386_Asp398delinsHis In-frame insertion or deletion C-term Unknown Female Not Known 1751