Gene entry
SGCB
sarcoglycan beta
- Chromosome
- 4
- Cytoband
- 4q12
- Variants (rsID)
- 9
SGCB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q12). Its official name is “sarcoglycan beta”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs104893871Conflicting interpretationssingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2E
- rs150395645Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of beta-sarcoglycan|Autosomal recessive limb-girdle muscular dystrophy type 2E
- rs200761715Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of beta-sarcoglycan|Autosomal recessive limb-girdle muscular dystrophy type 2E|Hypertrophic cardiomyopathy
- rs77404139Conflicting interpretationssingle nucleotide variantQualitative or quantitative defects of beta-sarcoglycan|Limb-Girdle Muscular Dystrophy, Recessive
- rs104893868Likely pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2E
- rs150518260Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2E|Qualitative or quantitative defects of beta-sarcoglycan|Inborn genetic diseases
- rs28936383Pathogenicsingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2E
- rs144743676Uncertain significancesingle nucleotide variantAutosomal recessive limb-girdle muscular dystrophy type 2E
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.
