Variant information



Systematic Name c.1115_1201del87
Protein name p.His372_Ser401delinsArg
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.1115_1201del87 p.His372_Ser401delinsArg In-frame insertion or deletion C-term Unknown Female Not Known 1777