PGM3 Chromosome 6
Phosphoglucomutase 3
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What This Gene Does
This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Associated Conditions (5)
Immunodeficiency 23
Inborn genetic diseases
PGM3-related disorder
Severe combined immunodeficiency disease
Hyper-IgE syndrome
Key Variants
RS140499200
Conflicting classifications of pathogenicity
Immunodeficiency 23, Inborn genetic diseases, Immunodeficiency 23
Health Risk
RS1554257039
Conflicting classifications of pathogenicity
Immunodeficiency 23, Immunodeficiency 23
Health Risk
RS1786845541
Conflicting classifications of pathogenicity
Immunodeficiency 23, Inborn genetic diseases, Immunodeficiency 23
Health Risk
RS201392846
Conflicting classifications of pathogenicity
Immunodeficiency 23, Immunodeficiency 23
Health Risk
RS34238319
Conflicting classifications of pathogenicity
Immunodeficiency 23, Immunodeficiency 23
Health Risk
RS369328277
Conflicting classifications of pathogenicity
Immunodeficiency 23, Inborn genetic diseases, Immunodeficiency 23
Health Risk
RS375523747
Conflicting classifications of pathogenicity
Immunodeficiency 23, Inborn genetic diseases, Immunodeficiency 23
Health Risk
RS73749732
Conflicting classifications of pathogenicity
Immunodeficiency 23, PGM3-related disorder, Immunodeficiency 23
Health Risk
RS745508510
Conflicting classifications of pathogenicity
Immunodeficiency 23, Severe combined immunodeficiency disease, Immunodeficiency 23
Health Risk
RS752657453
Conflicting classifications of pathogenicity
Immunodeficiency 23, Immunodeficiency 23
Health Risk
RS753019951
Conflicting classifications of pathogenicity
Immunodeficiency 23, PGM3-related disorder, Immunodeficiency 23
Health Risk
RS774568856
Conflicting classifications of pathogenicity
Immunodeficiency 23, Severe combined immunodeficiency disease, Immunodeficiency 23
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140499200 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 23, Inborn genetic diseases, Immunodeficiency 23 |
| RS1554257039 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 23, Immunodeficiency 23 |
| RS1786845541 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 23, Inborn genetic diseases, Immunodeficiency 23 |
| RS201392846 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 23, Immunodeficiency 23 |
| RS34238319 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 23, Immunodeficiency 23 |
| RS369328277 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 23, Inborn genetic diseases, Immunodeficiency 23 |
| RS375523747 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 23, Inborn genetic diseases, Immunodeficiency 23 |
| RS73749732 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 23, PGM3-related disorder, Immunodeficiency 23 |
| RS745508510 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 23, Severe combined immunodeficiency disease, Immunodeficiency 23 |
| RS752657453 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 23, Immunodeficiency 23 |
| RS753019951 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 23, PGM3-related disorder, Immunodeficiency 23 |
| RS774568856 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 23, Severe combined immunodeficiency disease, Immunodeficiency 23 |
| RS1483237450 | Health Risk | Likely pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS1786839596 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS1788056577 | Health Risk | Likely pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS1788192479 | Health Risk | Likely pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2538080888 | Health Risk | Likely pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2538234398 | Health Risk | Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS2538239953 | Health Risk | Likely pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS587777413 | Health Risk | Likely pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS1019772614 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS1236597304 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS1293351659 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS1373505634 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS1404084330 | Health Risk | Pathogenic | Immunodeficiency 23, PGM3-related disorder, Immunodeficiency 23 |
| RS1452031238 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS1787601205 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS1788795866 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2128497316 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2128504331 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2128509412 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2537971458 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2537974300 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2538025358 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2538081181 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2538122346 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2538123289 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2538141187 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2538151189 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2538210853 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2538211894 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2538233913 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2538234999 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS2538235844 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS267608260 | Health Risk | Pathogenic | Hyper-IgE syndrome, Immunodeficiency 23, Hyper-IgE syndrome |
| RS267608261 | Health Risk | Pathogenic | Immunodeficiency 23, Hyper-IgE syndrome, Immunodeficiency 23 |
| RS587777414 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS587777415 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS587777416 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |
| RS587777564 | Health Risk | Pathogenic | Immunodeficiency 23, Immunodeficiency 23 |