SGCB Chromosome 4
Sarcoglycan beta
Upload your DNA to see your personal genotypes for variants in SGCB.
What This Gene Does
This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]
Associated Conditions (11)
Autosomal recessive limb-girdle muscular dystrophy type 2E
Qualitative or quantitative defects of beta-sarcoglycan
Primary dilated cardiomyopathy
Inborn genetic diseases
Hepatocellular carcinoma
SGCB-related disorder
Autosomal recessive limb-girdle muscular dystrophy
Abnormality of the musculature
Limb-girdle muscular dystrophy
Sialidosis
recessive
Key Variants
RS1018529334
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
Health Risk
RS1057521057
Conflicting classifications of pathogenicity
Qualitative or quantitative defects of beta-sarcoglycan, Qualitative or quantitative defects of beta-sarcoglycan
Health Risk
RS116214830
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2E, Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2E
Health Risk
RS1207685911
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
Health Risk
RS1281862962
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
Health Risk
RS138877636
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan, Inborn genetic diseases
Health Risk
RS142801720
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2E
Health Risk
RS146888744
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan, Hepatocellular carcinoma
Health Risk
RS149121189
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2E, SGCB-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2E
Health Risk
RS150395645
Conflicting classifications of pathogenicity
Qualitative or quantitative defects of beta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan
Health Risk
RS1553940172
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
Health Risk
RS1553940963
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2E
Health Risk
All Variants (136)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2475221590 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221776 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221951 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475222188 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475223506 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475223584 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230035 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230289 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230407 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230551 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230575 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475237480 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS398123262 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Primary dilated cardiomyopathy, Abnormality of the musculature |
| RS762652676 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS936193061 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1013015106 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS104893868 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1057517064 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1263020044 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1264362642 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1448040082 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553939675 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553940079 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553940274 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1553940661 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1578125670 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1578126090 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1737147925 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1737176330 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1737305761 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1737453248 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1737457235 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2109369924 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2109370093 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2109370922 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2109371877 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2109372060 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2109372084 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2109375847 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2109376054 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2109380910 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2109380938 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2109380946 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475219892 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475220056 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221549 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221626 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221695 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475221832 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy |
| RS2475221946 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |