Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type in-frame combined insertion and deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.943_1140del198ins6 p.Glu315_Val380delins2 Female Not Known 4513 :Das, S., Dempsey, M. U. Chicago:: View details