Variant information



Systematic Name c.816_832del17
Protein name p.Gly273fs
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.816_832del17 p.Gly273fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 2609