TCN1 Chromosome 11
Transcobalamin 1
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What This Gene Does
This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. [provided by RefSeq, Jul 2008]
Associated Conditions (2)
Transcobalamin I deficiency
TCN1-related disorder
Key Variants
RS142805308
Conflicting classifications of pathogenicity
Transcobalamin I deficiency, Transcobalamin I deficiency
Health Risk
RS145176701
Conflicting classifications of pathogenicity
Transcobalamin I deficiency, Transcobalamin I deficiency
Health Risk
RS34530014
Conflicting classifications of pathogenicity
Transcobalamin I deficiency, TCN1-related disorder, Transcobalamin I deficiency
Health Risk
RS35287646
Conflicting classifications of pathogenicity
Transcobalamin I deficiency, Transcobalamin I deficiency
Health Risk
RS1209702636
Pathogenic
Transcobalamin I deficiency, Transcobalamin I deficiency
Health Risk
RS2495751032
Pathogenic
Transcobalamin I deficiency, Transcobalamin I deficiency
Health Risk
RS749820775
Pathogenic
Transcobalamin I deficiency, Transcobalamin I deficiency
Health Risk
RS767766166
Pathogenic
Transcobalamin I deficiency, Transcobalamin I deficiency
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142805308 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin I deficiency, Transcobalamin I deficiency |
| RS145176701 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin I deficiency, Transcobalamin I deficiency |
| RS34530014 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin I deficiency, TCN1-related disorder, Transcobalamin I deficiency |
| RS35287646 | Health Risk | Conflicting classifications of pathogenicity | Transcobalamin I deficiency, Transcobalamin I deficiency |
| RS1209702636 | Health Risk | Pathogenic | Transcobalamin I deficiency, Transcobalamin I deficiency |
| RS2495751032 | Health Risk | Pathogenic | Transcobalamin I deficiency, Transcobalamin I deficiency |
| RS749820775 | Health Risk | Pathogenic | Transcobalamin I deficiency, Transcobalamin I deficiency |
| RS767766166 | Health Risk | Pathogenic | Transcobalamin I deficiency, Transcobalamin I deficiency |