Variant information



Systematic Name c.720dupC
Protein name p.Thr241fs
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.720dupC p.Thr241fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 285