Gene entry
SGCA
sarcoglycan alpha
- Chromosome
- 17
- Cytoband
- 17q21.33
- Variants (rsID)
- 20
SGCA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q21.33). Its official name is “sarcoglycan alpha”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
18 reference-table entries with clinical significance.
- rs60300808Benignsingle nucleotide variantSarcoglycanopathy|Autosomal recessive limb-girdle muscular dystrophy type 2D
- rs73987439Benignsingle nucleotide variantSarcoglycanopathy
- rs138254713Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2D|Sarcoglycanopathy
- rs145697858Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2D
- rs186669379Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2D
- rs199527818Conflicting interpretationssingle nucleotide variantSarcoglycanopathy
- rs201131924Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2D|Sarcoglycanopathy
- rs574376340Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2D
- rs757481230Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2D
- rs780264754Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2D|Sarcoglycanopathy
- rs137852621Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2D
- rs137852623Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2D|Sarcoglycanopathy|Autosomal recessive limb-girdle muscular dystrophy|Abnormality of the musculature
- rs138945081Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2D
- rs143570936Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2D|Sarcoglycanopathy|See cases|Autosomal recessive limb-girdle muscular dystrophy
- rs28933693Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2D|Sarcoglycanopathy|Abnormality of the musculature
- rs371675217Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2D
- rs753650776PathogenicDeletionAutosomal recessive limb-girdle muscular dystrophy type 2D
- rs886041387PathogenicDeletion
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
