GYS1 Chromosome 19
Glycogen synthase 1
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What This Gene Does
The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Glycosyl transferases group 1 domain containing
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000104812
Associated Conditions (3)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
GYS1-related disorder
Glycogen storage disease
Key Variants
RS13306415
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Health Risk
RS1391443496
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Health Risk
RS139974904
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Health Risk
RS140201404
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Health Risk
RS142265031
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, GYS1-related disorder, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Health Risk
RS147610727
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Health Risk
RS202114467
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Health Risk
RS2513737311
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, GYS1-related disorder, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Health Risk
RS3745692
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Health Risk
RS377125421
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Health Risk
RS748174034
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Health Risk
RS748334413
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS13306415 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS1391443496 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS139974904 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS140201404 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS142265031 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, GYS1-related disorder, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS147610727 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS202114467 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS2513737311 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, GYS1-related disorder, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS3745692 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS377125421 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS748174034 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS748334413 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS751382433 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS758550328 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS761332247 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS762629200 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS773065230 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS775362871 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS886054570 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS886054573 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS111911126 | Health Risk | Likely pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS1219432457 | Health Risk | Likely pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS1382122523 | Health Risk | Likely pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS1422043936 | Health Risk | Likely pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS2038778316 | Health Risk | Likely pathogenic | Glycogen storage disease, Glycogen storage disease |
| RS2122525708 | Health Risk | Likely pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS2513729083 | Health Risk | Likely pathogenic | GYS1-related disorder, GYS1-related disorder |
| RS370779569 | Health Risk | Likely pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS121434584 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS1225603414 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS1269675538 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS1269744178 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS1331157104 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS1345327745 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS1362360554 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS1568619900 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS2122461010 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS2122509664 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS2122509752 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS2122520177 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS2122525139 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS2513710502 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS2513716650 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS756802243 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS772991517 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS776493768 | Health Risk | Pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS561646250 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS587777375 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS755305465 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |
| RS775324036 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency |