Variant (rsID / SNP)
rs139369964
rs139369964 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCG. Location: chromosome 13, position 23,898,690. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SGCGConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:23898690
- Cytoband
- 13q12.12
- HGVS
- NM_000231.3(SGCG):c.*10G>A
- Allele change
- Silent
Associated conditions / phenotypes
Limb-Girdle Muscular Dystrophy, Recessive|Sarcoglycanopathy|Severe autosomal recessive muscular dystrophy of childhood - North African type
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.