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Variant (rsID / SNP)

rs146923842

CAPN3

rs146923842 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAPN3. Location: chromosome 15, position 42,702,858. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CAPN3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:42702858
Cytoband
15q15.1
HGVS
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
Allele change
Missense_D753N

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2A|CAPN3-Related Disorders|Muscular dystrophy, limb-girdle, autosomal dominant 4

Public references

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