Variant information



Systematic Name c.1041_*29del450
Protein name p.Lys347_Ser486delins17
Mutation type In-frame 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.1041_*29del450 p.Lys347_Ser486delins17 In-frame insertion or deletion C-term Mutation associated with disease Female Not Known 1745