Variant information



Systematic Name c.792_793delTC
Protein name p.Pro265fs
Mutation type Frameshift insertion or deletion
Domain TRD-NLS
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.792_793delTC p.Pro265fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1895