SGCG Chromosome 13
Sarcoglycan gamma
Upload your DNA to see your personal genotypes for variants in SGCG.
What This Gene Does
This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]
Associated Conditions (8)
Autosomal recessive limb-girdle muscular dystrophy type 2C
SGCG-related disorder
Sarcoglycanopathy
Inborn genetic diseases
Primary dilated cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy
Abnormality of the musculature
SGCG-related congenital myopathy
Key Variants
RS114160429
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, SGCG-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS1165407566
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS1174403532
Conflicting classifications of pathogenicity
Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C, Sarcoglycanopathy
Health Risk
RS1254791358
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS1349925286
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS1359141230
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS1394135402
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS140810408
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS142409090
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
RS143009120
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2C, Inborn genetic diseases
Health Risk
RS144143366
Conflicting classifications of pathogenicity
Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C, Sarcoglycanopathy
Health Risk
RS144277094
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
Health Risk
All Variants (112)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2541936716 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2541997209 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2542103069 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2542103135 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2542103387 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS781760379 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS875989949 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS886042370 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS104894423 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy, Inborn genetic diseases |
| RS1180551378 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1196026821 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1199421806 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1325816562 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1351510337 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1432706111 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555248000 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1593197637 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1593216248 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1879928532 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1881219252 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1883154291 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2137501447 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2137501542 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2137501584 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2137528211 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2137528297 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2137528349 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2137534154 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2137644682 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2137644772 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2500525027 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2528278649 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2541899936 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2542029970 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2542092554 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS758078849 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS760108586 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS762777463 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS768134426 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS780348174 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS786204786 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, SGCG-related congenital myopathy, Autosomal recessive limb-girdle muscular dystrophy |
| RS79500874 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS797044783 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS797045106 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS886042540 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS886042749 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1011397929 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS104894422 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1262459682 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1361450354 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |