Variant (rsID / SNP)

rs3913482

rs3913482 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCD. Location: chromosome 5, position 156,191,515. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SGCDBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:156191515
Cytoband: 5q33.3
HGVS: NM_000337.6(SGCD):c.*5114C>T
Allele change: Silent

Associated conditions / phenotypes

Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of delta-sarcoglycan

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.