Variant: rs104893662 

    present in Gene: SLC40A1
    present in Chromosome: 2
    Position on Chromosome: 189571799
    Alleles of this Variant: T/A;G

rs104893662 in SLC40A1 gene and HEMOCHROMATOSIS, TYPE 4 PMID 12091367 2002 Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3).

PMID 12091366 2002 Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis.

PMID 15466004 2004 Recent advances in understanding haemochromatosis: a transition state.

PMID 11518736 2001 Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.

PMID 12865285 2003 A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient.

PMID 15338274 2004 Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.

PMID 12123233 2002 A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4.

PMID 12406098 2002 Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).

PMID 11431687 2001 A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

PMID 12730114 2003 Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.

PMID 10747949 2000 A novel mammalian iron-regulated protein involved in intracellular iron metabolism.

PMID 12857562 2003 Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family.

PMID 16351644 2005 Genetic and clinical heterogeneity of ferroportin disease.