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Variant (rsID / SNP)

rs138945081

SGCA

rs138945081 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SGCA. Location: chromosome 17, position 48,245,077. 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
17:48245077
Cytoband
17q21.33
HGVS
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
Allele change
Missense_R98C

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2D

Public references

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