SGCG Chromosome 13
Sarcoglycan gamma
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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 |
|---|---|---|---|
| RS114160429 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, SGCG-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1165407566 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1174403532 | Health Risk | Conflicting classifications of pathogenicity | Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C, Sarcoglycanopathy |
| RS1254791358 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1349925286 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1359141230 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1394135402 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS140810408 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS142409090 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS143009120 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2C, Inborn genetic diseases |
| RS144143366 | Health Risk | Conflicting classifications of pathogenicity | Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C, Sarcoglycanopathy |
| RS144277094 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS144497243 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS147820869 | Health Risk | Conflicting classifications of pathogenicity | Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C, Sarcoglycanopathy |
| RS149595403 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555245351 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS183204936 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS199905729 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS367595212 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS532463691 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS560640452 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS745599370 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747046381 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS755404457 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS759316719 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS763248287 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS769893030 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770596449 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS774582375 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS776289036 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1013988350 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1185360439 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555234799 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555234810 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555245353 | Health Risk | Likely 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 |
| RS1555247973 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1555248289 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1566011034 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS1883001175 | Health Risk | Likely 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 |
| RS1883152345 | 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 |
| RS200206447 | Health Risk | Likely 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 |
| RS2137501342 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2137528312 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2137534216 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2500524682 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2541899899 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2541900238 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2541900385 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2541936326 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |
| RS2541936647 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C |