Codon 39 nonsense (beta-thalassemia)

GPTKB entity

Statements (15)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:aminoAcidChange CAG>TAG
Gln39Ter
gptkbp:associatedWith gptkb:beta-thalassemia
gptkbp:commonIn gptkb:Mediterranean_populations
gptkbp:Entrez_Gene_ID rs11549407
https://www.w3.org/2000/01/rdf-schema#label Codon 39 nonsense (beta-thalassemia)
gptkbp:mutationAssociatedWith nonsense mutation
gptkbp:OMIM 603902.0003
gptkbp:regulates gptkb:HBB
gptkbp:result premature stop codon
truncated beta-globin protein
gptkbp:significance causes beta-thalassemia major
gptkbp:bfsParent gptkb:HBB_gene
gptkbp:bfsLayer 6