Variant information



Systematic Name c.[916C>T(;)*98dupA]
Protein name "p.Arg306Cys, 3'UTR variation"
Mutation type missense, 3'UTR variation
Domain TRD, 3'UTR
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.[916C>T(;)*98dupA] "p.Arg306Cys, 3'UTR variation" missense, 3'UTR variation TRD, 3'UTR Mutation associated with disease Female Rett syndrome-classical 4299