Variant (rsID / SNP)
rs77404139
rs77404139 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCB. Location: chromosome 4, position 52,889,018. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SGCBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:52889018
- Cytoband
- 4q12
- HGVS
- NM_000232.5(SGCB):c.*1105A>G
- Allele change
- Silent
Associated conditions / phenotypes
Qualitative or quantitative defects of beta-sarcoglycan|Limb-Girdle Muscular Dystrophy, Recessive
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.