Variant information

Systematic Name c.[641_653del13; 711_1309del599]
Protein name p.Glu214_Gln437delinsGlySerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyGlu
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.[641_653del13; 711_1309del599] p.Glu214_Gln437delinsGlySerSerLeuSerArgCysLeuPheLysLeuArgGlnGlyAlaArgLeuArgGlyGlu in-frame insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3518