Variant (rsID / SNP)
rs60300808
rs60300808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCA. Location: chromosome 17, position 48,252,808. Clinical significance in the table: Benign.
Reference-table entries
SGCABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:48252808
- Cytoband
- 17q21.33
- HGVS
- NM_000023.4(SGCA):c.*10C>G
- Allele change
- Silent
Associated conditions / phenotypes
Sarcoglycanopathy|Autosomal recessive limb-girdle muscular dystrophy type 2D
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.