TFRC Chromosome 3
Transferrin receptor
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What This Gene Does
This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
"CD molecules|M28 metallopeptidases"
Locus Type
gene with protein product
Location
3q29
Ensembl
ENSG00000072274
Associated Conditions (4)
Inborn genetic diseases
TFRC-related combined immunodeficiency
Combined immunodeficiency
TFRC-related disorder
Key Variants
RS1461496815
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201408488
Conflicting classifications of pathogenicity
TFRC-related combined immunodeficiency, TFRC-related combined immunodeficiency
Health Risk
RS745484177
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS759531099
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS760562518
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS863225436
Conflicting classifications of pathogenicity
Combined immunodeficiency, TFRC-related combined immunodeficiency, TFRC-related disorder
Health Risk
RS1341988492
Pathogenic
TFRC-related combined immunodeficiency, TFRC-related combined immunodeficiency
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1461496815 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201408488 | Health Risk | Conflicting classifications of pathogenicity | TFRC-related combined immunodeficiency, TFRC-related combined immunodeficiency |
| RS745484177 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759531099 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760562518 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS863225436 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency, TFRC-related combined immunodeficiency, TFRC-related disorder |
| RS1341988492 | Health Risk | Pathogenic | TFRC-related combined immunodeficiency, TFRC-related combined immunodeficiency |