Variant: rs80338876

present in Gene: TFR2 present in Chromosome: 7 Position on Chromosome: 100641198 Alleles of this Variant: C/T

rs80338876 in TFR2 gene and HEMOCHROMATOSIS, TYPE 3 PMID 14633868 2003 Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.

PMID 12130528 2002 Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.

PMID 11313241 2001 New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.