Variant information



Systematic Name c.822_1184del363
Protein name p.Val275_Ser396del
Mutation type in-frame 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.822_1184del363 p.Val275_Ser396del in-frame insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3276