TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: Iron Overload ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1458641771
rs1458641771
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C0282193
Disease:
Iron Overload 		0.010 GeneticVariation BEFREE These findings and the iron overload phenotype of the patient suggest that the novel mutation c.386T>C (p.L129P) in the SLC40A1 gene has incomplete penetrance and causes the classical form of ferroportin disease. 24644245 2014