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Variant (rsID / SNP)

rs200761715

SGCB

rs200761715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCB. Location: chromosome 4, position 52,890,281. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SGCBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:52890281
Cytoband
4q12
HGVS
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
Allele change
Missense_R267C

Associated conditions / phenotypes

Limb-Girdle Muscular Dystrophy, Recessive|Qualitative or quantitative defects of beta-sarcoglycan|Autosomal recessive limb-girdle muscular dystrophy type 2E|Hypertrophic cardiomyopathy

Public references

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