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 |
|---|---|---|---|
| RS2475222171 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230629 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230634 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475237395 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475237489 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS28936383 | 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 |
| RS555514820 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy |
| RS747809412 | 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 |
| RS751427729 | 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 |
| RS762114570 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS765139006 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS779516489 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS780596734 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS796065319 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS886042546 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS104893869 | Health Risk | Pathogenic/Likely 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 |
| RS104893870 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS104893871 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1057517051 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1057517205 | Health Risk | Pathogenic/Likely 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 |
| RS1365923535 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1484409119 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2E, Abnormality of the musculature |
| RS150518260 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan, Inborn genetic diseases |
| RS1553940687 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS1737204592 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2109376007 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2109380824 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475230212 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS2475237449 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS750773622 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS751427686 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E, Sialidosis |
| RS752492870 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Limb-girdle muscular dystrophy, recessive |
| RS771814273 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS773554421 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS775458201 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E |
| RS886042503 | Health Risk | Pathogenic/Likely pathogenic | Qualitative or quantitative defects of beta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan |