Variant information



Systematic Name c.747_751dup5
Protein name p.Pro251fs
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.747_751dup5 p.Pro251fs Frameshift insertion or deletion TRD Mutation associated with disease Unknown Rett syndrome-Not certain 256