Variant information



Systematic Name c.616_1122del507
Protein name p.Gly206_Glu374del
Mutation type inframe insertion or deletion
Domain inter-domain region, TRD, TRD-NLS, C-term
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.616_1122del507 p.Gly206_Glu374del inframe insertion or deletion inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Female Rett syndrome-classical 3749