Variant information



Systematic Name c.635_655del21
Protein name p.Val212_Lys219delinsGlu
Mutation type In-frame insertion or deletion
Domain TRD
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.635_655del21 p.Val212_Lys219delinsGlu In-frame insertion or deletion TRD Unknown Female Rett syndrome-Not certain 1248