Variant information



Systematic Name c.849_1236del388
Protein name p.Lys284fs
Mutation type Frameshift insertion or deletion
Domain TRD
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.849_1236del388 p.Lys284fs Frameshift insertion or deletion TRD Mutation associated with disease Unknown Rett syndrome-Not certain 138