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Variant (rsID / SNP)

rs137852623

SGCA

rs137852623 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCA. Location: chromosome 17, position 48,247,606. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SGCAPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:48247606
Cytoband
17q21.33
HGVS
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
Allele change
Silent

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2D|Sarcoglycanopathy|Autosomal recessive limb-girdle muscular dystrophy|Abnormality of the musculature

Public references

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