TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: HEMOCHROMATOSIS, TYPE 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338880
rs80338880
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease:
HEMOCHROMATOSIS, TYPE 3 		0.730 GeneticVariation BEFREE By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies of the less frequently observed sequence deviations as substitution S65C in the HFE gene and mutation Y250X in the TFR2 gene underlying hemochromatosis type 3 (HFE3) were < 0.02 both in PCT patients and controls. 17298224 2006
dbSNP: rs80338880
rs80338880
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease:
HEMOCHROMATOSIS, TYPE 3 		0.730 GeneticVariation BEFREE Five TFR2 homozygous mutations have been documented in HFE3 patients: a nonsense mutation (Y250X); a C insertion that causes a frameshift and a premature stop codon (E60X); a missense mutation (M172K); a 12 basepair deletion in exon 16, that causes 4 aminoacid loss (AVAQ 594-597del) in the extracellular domain of TFR2; a missense mutation in exon 17 (Q690P). 12547237 2003
dbSNP: rs80338880
rs80338880
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease:
HEMOCHROMATOSIS, TYPE 3 		0.730 GeneticVariation BEFREE Patients with HFE3 have transferrin receptor 2 (TFR2) inactivated by a homozygous nonsense mutation (Y250X). 11313241 2001
dbSNP: rs80338880
rs80338880
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease:
HEMOCHROMATOSIS, TYPE 3 		C 0.730 CausalMutation CLINVAR