|
rs137852310
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote.
|
10029606 |
1999 |
|
rs144848
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of allele H of the polymorphism N372H in patients was significantly higher than that of the controls (23.5% versus 17.6%, OR = 1.49, 95% CI 1.06-1.97, P = 0.02) and the subjects bearing rare allele H (NH + HH) significantly increased in patients compared with controls (41.7% versus 32.4%, 95% CI 1.03-2.15, P = 0.03).
|
16257105 |
2006 |
|
rs1374259518
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified the c.208T>C (p.C70R) mutation in the HAMP gene in a patient affected by a severe form of hereditary hemochromatosis.
|
15024747 |
2004 |
|
rs779021719
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated.
|
21411349 |
2011 |
|
rs35201683
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, the Y250X mutation could be the molecular defect responsible for hereditary hemochromatosis in subjects with atypical HFE genotypes.
|
11358390 |
2001 |
|
rs765545512
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated.
|
21411349 |
2011 |
|
rs1799945
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
|
26365338 |
2015 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We assessed iron intake, mutations in the HFE gene that are associated with hereditary hemochromatosis (i.e., H63D and C282Y), and plasma biochemical measures of total body iron, including transferrin saturation and the ratio of the concentrations of transferrin receptors to ferritin.
|
15956653 |
2005 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population.
|
12624489 |
2003 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
C282Y and H63D mutations together with HLA genetic typing have been performed in Spanish hereditary hemochromatosis (n = 98) and PCT (n = 63) patients.
|
15740492 |
2005 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary haemochromatosis has been linked with C282Y and H63D mutations of the HFE gene.
|
18263976 |
2008 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Classical HH is associated with mutations in HFE (C282Y homozygotes or C282Y/H63D compound heterozygotes) and is almost exclusively found in populations of northern European descent.
|
19034258 |
2008 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Two other mutations, 187G, a histidine to aspartate at amino acid 63 (H63D), and 193T, a serine to cysteine at amino acid 65 (S65C), appear to be associated with milder forms of hereditary hemochromatosis.
|
12547216 |
2003 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The purposes of this current study were to determine the prevalence of the C282Y and H63D mutations in the Balearic Islands and the genotypic characterization of patients diagnosed with HH, as well as those with iron overload and liver diseases.
|
11903355 |
2002 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Clinically, this study of H63D homozygotes supports the conclusion that this genotype must be taken into account, because it confers an increased risk of iron overload and therefore genetic susceptibility to developing hereditary hemochromatosis or to aggravating other diseases.
|
16433696 |
2006 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis is primarily associated with the C282Y mutation; the importance of H63D is not well known.
|
17450498 |
2007 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The C282Y and the H63D mutation of the HFE gene were analyzed in 137 patients with HCC and no history of HH, 107 patients with cirrhosis without HCC and 126 healthy controls.
|
15017669 |
2003 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
H63D homozygosity can be associated with various phenotypes from asymptomatic subjects to patients with a typical form of hereditary hemochromatosis.
|
11358390 |
2001 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Two popular mutations in HFE, p.C282Y and p.H63D, have been discovered and found to associate with HH in different ethnic backgrounds. p.C282Y and p.H63D diagnosis is usually made by restriction enzyme analysis.
|
16672055 |
2006 |
|
rs1799945
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
The molecular genetics of haemochromatosis.
|
16132052 |
2005 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Between 4% and 35% of hereditary hemochromatosis (HC) probands are C282Y or H63D heterozygotes or lack both of these two common HFE mutations, and 15 novel HFE mutations have been described recently.
|
11514397 |
2001 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The role of the second mutation, the substitution of an aspartic acid for a histidine (H63D), is not so clear but compound heterozygotes for both these mutations have a significant risk of developing HH.
|
10953955 |
2000 |
|
rs1799945
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.
|
9356458 |
1997 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Low CD8(+) T lymphocyte numbers have contributed to deciphering the genotype/phenotype discrepancies found in hereditary hemochromatosis (HH) patients genotyped for the Hfe mutations, C282Y and H63D.
|
11334672 |
2001 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To investigate whether there was increased frequency of the two common HFE gene mutations, C282Y and H63D, associated with HH amongst a cohort of CD patients, and to determine the penetrance of the HH associated genotypes in this cohort.
|
16615226 |
2006 |