Variant (rsID / SNP)
rs200670993
rs200670993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCD. Location: chromosome 5, position 155,771,618. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SGCDConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:155771618
- Cytoband
- 5q33.3
- HGVS
- NM_000337.6(SGCD):c.123C>G (p.Leu41=)
- Allele change
- Synonymous_L40L
Associated conditions / phenotypes
Autosomal recessive limb-girdle muscular dystrophy type 2F|Qualitative or quantitative defects of delta-sarcoglycan
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.