Variant information

Systematic Name c.1170_1207del38
Protein name p.Pro391*
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.1170_1207del38 p.Pro391* frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4419