Variant information



Systematic Name c.[1451G>C];[*98dupA]
Protein name p.[Arg484Thr];[=]
Mutation type missense, 3'UTR
Domain C-term, 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.[1451G>C];[*98dupA] p.[Arg484Thr];[=] missense, 3'UTR C-term, 3'UTR Polymorphism not causing disease Female Rett syndrome-classical 3048