rs137852311
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ALAS2 R452S largely explains this patient's microcytic anemia and multi-organ iron overload and dysfunction.
|
19066423 |
2008 |
rs769217
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A simple method for examination of polymorphisms of catalase exon 9: rs769217 in Hungarian microcytic anemia and beta-thalassemia patients.
|
22286031 |
2012 |
rs1135401784
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs386134141
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs376129674
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R271Q variant, although it has been associated with iron-refractory iron deficiency anemia, appears to remain functional.
|
25588876 |
2015 |
rs121918365
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional characterization of the E399D DMT1/NRAMP2/SLC11A2 protein produced by an exon 12 mutation in a patient with microcytic anemia and iron overload.
|
16023393 |
2006 |
rs121918366
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We propose that DMT1(C1246T) (R416C) represents a complete loss-of-function, and that a quantitative reduction in DMT1 expression is the cause of the microcytic anemia and iron overload in the patient.
|
16584902 |
2006 |
rs121918367
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload.
|
21871825 |
2011 |
rs137853119
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia.
|
19747362 |
2009 |
rs137853119
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.
|
25156943 |
2014 |
rs137853119
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia.
|
21618415 |
2012 |
rs137853119
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).
|
20232450 |
2010 |
rs137853119
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.
|
19592582 |
2009 |
rs137853119
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.
|
20704562 |
2010 |
rs137853119
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).
|
18408718 |
2008 |
rs137853119
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia.
|
19708871 |
2009 |
rs137853119
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137853119
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.
|
22581667 |
2012 |
rs137853119
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.
|
19357398 |
2009 |
rs137853119
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia.
|
25588876 |
2015 |
rs137853119
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.
|
18603562 |
2008 |
rs137853120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.
|
22581667 |
2012 |
rs137853120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel splice site mutation c.2278 (-1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia.
|
19747362 |
2009 |
rs137853120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).
|
18408718 |
2008 |
rs137853120
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia.
|
25588876 |
2015 |