Variant information



Systematic Name c.*5486_*5487dupAT
Protein name 3'UTR variation
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.*5486_*5487dupAT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Unknown Not Rett synd. 2715
2 c.*5486_*5487dupAT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Unknown Not Rett synd. 4019