Variant information



Systematic Name c.[1189G>A(;)*55C>G]
Protein name "p.Glu397Lys, 3'UTR variation"
Mutation type Missense, 3'UTR variation
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.[1189G>A(;)*55C>G] "p.Glu397Lys, 3'UTR variation" Missense, 3'UTR variation C-term, 3'UTR Polymorphism not causing disease Female Not Known 2055