Variant information



Systematic Name c.752_753dupCC
Protein name p.Gly252fs
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.752_753dupCC p.Gly252fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1112
2 c.752_753dupCC p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Male Not Known 2047
3 c.752_753dupCC p.Gly252fs frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 4480