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Variant (rsID / SNP)

rs397516338

SGCD

rs397516338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCD. Location: chromosome 5, position 156,186,376. 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
5:156186376
Cytoband
5q33.3
HGVS
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)
Allele change
Missense_Q282R

Associated conditions / phenotypes

Qualitative or quantitative defects of delta-sarcoglycan|Limb-Girdle Muscular Dystrophy, Recessive|Hypertrophic cardiomyopathy 1|Autosomal recessive limb-girdle muscular dystrophy type 2F|Primary dilated cardiomyopathy

Public references

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