Variant information



Systematic Name c.785_818del34
Protein name p.Gln262fs
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.785_818del34 p.Gln262fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 140