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Variant (rsID / SNP)

rs121434548

CAPN3

rs121434548 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAPN3. Location: chromosome 15, position 42,693,953. Clinical significance in the table: Pathogenic.

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Reference-table entries

CAPN3Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:42693953
Cytoband
15q15.1
HGVS
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)
Allele change
Missense_R490P

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2A|Autosomal recessive limb-girdle muscular dystrophy

Public references

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