SGCD Chromosome 5
Sarcoglycan delta
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What This Gene Does
The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (12)
Qualitative or quantitative defects of delta-sarcoglycan
Autosomal recessive limb-girdle muscular dystrophy type 2F
Inborn genetic diseases
Dilated cardiomyopathy 1L
SGCD-related disorder
Cardiomyopathy
Familial cancer of breast
Hypertrophic cardiomyopathy 1
Primary dilated cardiomyopathy
Abnormality of the musculature
Neuromuscular disease
Autosomal recessive limb-girdle muscular dystrophy
Key Variants
RS1440648894
Conflicting classifications of pathogenicity
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
Health Risk
RS145430692
Conflicting classifications of pathogenicity
Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
Health Risk
RS1561622931
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
Health Risk
RS180898690
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, SGCD-related disorder
Health Risk
RS184722381
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Qualitative or quantitative defects of delta-sarcoglycan
Health Risk
RS190935424
Conflicting classifications of pathogenicity
Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
Health Risk
RS200451694
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, SGCD-related disorder
Health Risk
RS200476861
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2F, Cardiomyopathy, Qualitative or quantitative defects of delta-sarcoglycan
Health Risk
RS200670993
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Inborn genetic diseases
Health Risk
RS367616773
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F
Health Risk
RS367819390
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
Health Risk
RS368838376
Conflicting classifications of pathogenicity
Qualitative or quantitative defects of delta-sarcoglycan, Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2F
Health Risk
All Variants (76)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2480248711 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS2481652194 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L |
| RS397517923 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L |
| RS727503422 | Health Risk | Likely pathogenic | Neuromuscular disease, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS121909295 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy |
| RS121909296 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS1362615818 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS1369919728 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS1383430588 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS1412814368 | Health Risk | Pathogenic | Abnormality of the musculature, Abnormality of the musculature |
| RS1554094947 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS1561743757 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS1760626889 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS2113389536 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS2480201084 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS2480472838 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS2481653253 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS2481653983 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS267607045 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS758700138 | Health Risk | Pathogenic | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy |
| RS778760498 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS886043031 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS886043460 | Health Risk | Pathogenic | — |
| RS1760870278 | Health Risk | Pathogenic/Likely pathogenic | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L |
| RS1768838504 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS397517921 | Health Risk | Pathogenic/Likely pathogenic | Neuromuscular disease, Autosomal recessive limb-girdle muscular dystrophy type 2F, Neuromuscular disease |