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 |
|---|---|---|---|
| RS1440648894 | Health Risk | 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 |
| RS145430692 | Health Risk | Conflicting classifications of pathogenicity | Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases |
| RS1561622931 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS180898690 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, SGCD-related disorder |
| RS184722381 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Qualitative or quantitative defects of delta-sarcoglycan |
| RS190935424 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases |
| RS200451694 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, SGCD-related disorder |
| RS200476861 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Cardiomyopathy, Qualitative or quantitative defects of delta-sarcoglycan |
| RS200670993 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Inborn genetic diseases |
| RS367616773 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS367819390 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS368838376 | Health Risk | Conflicting classifications of pathogenicity | Qualitative or quantitative defects of delta-sarcoglycan, Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS374043017 | Health Risk | Conflicting classifications of pathogenicity | Qualitative or quantitative defects of delta-sarcoglycan, Qualitative or quantitative defects of delta-sarcoglycan |
| RS375477247 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS376141942 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS376659221 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS397516338 | Health Risk | Conflicting classifications of pathogenicity | Qualitative or quantitative defects of delta-sarcoglycan, Hypertrophic cardiomyopathy 1, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS538229806 | Health Risk | 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 |
| RS578056399 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS727503419 | Health Risk | Conflicting classifications of pathogenicity | Qualitative or quantitative defects of delta-sarcoglycan, Qualitative or quantitative defects of delta-sarcoglycan |
| RS727503421 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L |
| RS727504580 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L |
| RS727504584 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS727504998 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS727505092 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS747018859 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS74846539 | Health Risk | Conflicting classifications of pathogenicity | Qualitative or quantitative defects of delta-sarcoglycan, Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS749273088 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS753240054 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS753952200 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS756467431 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS756970013 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS7717393 | Health Risk | Conflicting classifications of pathogenicity | Qualitative or quantitative defects of delta-sarcoglycan, Qualitative or quantitative defects of delta-sarcoglycan |
| RS772185467 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS7724969 | Health Risk | Conflicting classifications of pathogenicity | Qualitative or quantitative defects of delta-sarcoglycan, Qualitative or quantitative defects of delta-sarcoglycan |
| RS886042290 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS886044132 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS886060284 | Health Risk | Conflicting classifications of pathogenicity | Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L |
| RS121909297 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS1267810339 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS1554094927 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS1554137109 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L |
| RS1554137130 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L |
| RS2113176852 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS2113369038 | Health Risk | Likely pathogenic | — |
| RS2113389287 | Health Risk | Likely pathogenic | Abnormality of the musculature, Abnormality of the musculature |
| RS2479930880 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F |
| RS2479930998 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L |
| RS2480210250 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L |
| RS2480247821 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L |