Variant information



Systematic Name c.[880C>T(;)*9G>A]
Protein name "p.Arg294*, 3'UTR variation"
Mutation type Nonsense, 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.[880C>T(;)*9G>A] "p.Arg294*, 3'UTR variation" Nonsense, 3'UTR variation TRD, 3'UTR Mutation associated with disease Female Not Known 2041