Variant: rs111033558 

    present in Gene: HFE
    present in Chromosome: 6
    Position on Chromosome: 26093215
    Alleles of this Variant: G/C;T

rs111033558 in HFE gene and HEMOCHROMATOSIS, TYPE 1 PMID 9620340 1998 Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America.

PMID 10094552 1999 A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

PMID 10194428 1999 HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

PMID 10401000 1999 Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

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 8696333 1996 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

PMID 15046077 2004 Gene symbol: HFE. Disease: Haemochromatosis.

PMID 16880462 2006 Screening for hemochromatosis: recommendation statement.

PMID 9024376 1997 Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.

PMID 10575540 1999 Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.

PMID 12737937 2004 Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

PMID 18157833 2008 An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.

PMID 15965644 2005 The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

PMID 12584229 2003 Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation.

PMID 9106528 1997 Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

PMID 11423500 2001 Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.

PMID 12542741 2002 Comprehensive hereditary hemochromatosis genotyping.

PMID 11446670 2001 Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene.