SGCA Chromosome 17
Sarcoglycan alpha
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What This Gene Does
This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Associated Conditions (13)
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy
Sarcoglycanopathy
SGCA-related disorder
Inborn genetic diseases
Qualitative or quantitative defects of alpha-sarcoglycan
Abnormality of the musculature
Hypertrophic cardiomyopathy
Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Muscular dystrophy
Limb-girdle muscular dystrophy
See cases
Key Variants
RS1219162630
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
Health Risk
RS1266940329
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
Health Risk
RS137852621
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2D
Health Risk
RS137852623
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy
Health Risk
RS138019537
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2D
Health Risk
RS139454982
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy, Sarcoglycanopathy
Health Risk
RS140261054
Conflicting classifications of pathogenicity
Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy
Health Risk
RS143551687
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2D, SGCA-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2D
Health Risk
RS143962150
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy
Health Risk
RS147739328
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2D, SGCA-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2D
Health Risk
RS149487996
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
Health Risk
RS1555568133
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (207)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1905103030 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1905167458 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1905254738 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144493323 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144494148 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144494297 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144495228 | Health Risk | Pathogenic | Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2D, Abnormality of the musculature |
| RS2144500924 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144501024 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144501029 | Health Risk | Pathogenic | — |
| RS2144501172 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2509113948 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2509118810 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2509118949 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS28933693 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy, Abnormality of the musculature |
| RS387907298 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy |
| RS397514451 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS752640127 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS753650776 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS760989961 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS763986788 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS780264754 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS796065318 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS886041387 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy |
| RS886043962 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS886044512 | Health Risk | Pathogenic | — |
| RS886044516 | Health Risk | Pathogenic | — |
| RS1017592342 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS112500642 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1161291343 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1220674950 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1342319346 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS143570936 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy, See cases |
| RS1438874821 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1555568335 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1555568518 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1555568775 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1567739228 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1567739339 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1598277713 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1905070544 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS1905256830 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS200166783 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144493135 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144493427 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144502043 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2509113878 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy |
| RS2509123048 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2509133581 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS757888349 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2D |