|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These diagnoses are more common than HH among patients with elevated serum ferritin who are not C282Y homozygotes or C282Y/H63D compound heterozygotes.
|
31335359 |
2019 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Three loss-of-function mutations in the hemochromatosis gene (HFE), namely, C282Y (c.845G>A), H63D (c.187C>G), and S65C (c.193A>T), account for the vast majority of HH cases.
|
30339210 |
2019 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants).
|
27124787 |
2016 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Statistically significant differences were observed for genotype distribution of C282Y (P < 0.001) and H63D (P = 0.013) between the general population and the patients diagnosed with HH.
|
27173269 |
2016 |
|
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 used the eMERGE Network, a multicenter cohort with genotype data linked to electronic medical records, to estimate the diagnostic rate and clinical penetrance of HH in 98 individuals homozygous for the variant coding for HFE p.Cys282Tyr and 397 compound heterozygotes with variants resulting in p.[His63Asp];[Cys282Tyr].
|
26365338 |
2015 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Diagnostic genetic testing for hereditary hemochromatosis is readily available for clinically relevant HFE variants (i.e., those that generate the C282Y, H63D and S65C HFE polymorphisms); however, genetic testing for other known causes of iron overload, including mutations affecting genes encoding hemojuvelin, transferrin receptor 2, HAMP, and ferroportin is not.
|
26142323 |
2015 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The H63D and C282Y mutations are well defined in the HH etiology.
|
24395214 |
2014 |
|
rs1799945
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Iron overload is rare in patients homozygous for the H63D mutation.
|
24729993 |
2014 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis.
|
22735619 |
2012 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
HFE gene mutations (C282Y and H63D) linked to hereditary hemochromatosis were analyzed by Fluorescence Resonance Energy Transfer (FRET) genotyping.
|
20974500 |
2012 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Among the patients, 20% had genotypes related to HH--7.4% were homozygous for C282Y, 6.3% were compound heterozygous for C282Y and H63D, 5.7% were homozygous for H63D, and 0.6% was compound heterozygous for C282Y and S65C.
|
21959608 |
2011 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The HFE p.C282Y in homozygosity or in heterozygosity with p.H63D was the most frequent mutation associated with HH in this sample.
|
21411349 |
2011 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis (HH) is an autosomal recessive disorder mainly associated with homozygosity for the C282Y and H63D mutations in the hemochromatosis (HFE) gene.
|
20196837 |
2010 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis has been linked with C282Y and H63D mutations of the HFE gene encoding human hemochromatosis protein.
|
20424537 |
2010 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The effect of HFE mutations on protein structure were analyzed by molecular dynamics simulation and free binding energy calculations. p.C282Y in homozygosis or in heterozygosis with p.H63D were the most frequent genotypic combinations associated with HH in our sample population (present in 17 individuals, 34%).
|
20843714 |
2010 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is significantly associated with hereditary hemochromatosis in populations of Celtic origin, H63D and S65C are associated with milder form of iron overload.
|
19822954 |
2009 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
C282Y and H63D are the main mutations related to hereditary hemochromatosis; these mutations have been reported to be associated with increased risk of developing diabetes mellitus type 2 (DM2).
|
19876870 |
2009 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We investigate the prevalence of C282Y, H63D and S65C mutations in 95 individuals (77 males, 18 females) bearing iron metabolism alterations to establish an early diagnosis of HH.
|
19656448 |
2009 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Development of hereditary hemochromatosis is associated with the C282Y, H63D or S65C mutations in the hemochromatosis gene.
|
19681031 |
2009 |
|
rs1799945
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians.
|
19759876 |
2009 |
|
rs1799945
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.
|
19554541 |
2009 |
|
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
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Contribution of different HFE genotypes to iron overload disease: a pooled analysis.
|
11399207 |
2008 |