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Variant (rsID / SNP)

rs780264754

SGCA

rs780264754 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCA. Location: chromosome 17, position 48,245,751. 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
17:48245751
Cytoband
17q21.33
HGVS
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
Allele change
Nonsense_Y134X

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.