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Variant (rsID / SNP)

rs138254713

SGCA

rs138254713 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCA. Location: chromosome 17, position 48,246,530. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SGCAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:48246530
Cytoband
17q21.33
HGVS
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
Allele change
Silent

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2D|Sarcoglycanopathy

Public references

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