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Variant (rsID / SNP)

rs74846539

SGCD

rs74846539 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCD. Location: chromosome 5, position 155,935,631. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SGCDConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:155935631
Cytoband
5q33.3
HGVS
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
Allele change
Synonymous_R70R

Associated conditions / phenotypes

Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of delta-sarcoglycan|Cardiomyopathy|Autosomal recessive limb-girdle muscular dystrophy type 2F

Public references

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