Variant information



Systematic Name c.1097_*13del378
Protein name p.His366_Ser486delins22
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.1097_*13del378 p.His366_Ser486delins22 In-frame insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 1367