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Variant (rsID / SNP)

rs148246325

CAPN3

rs148246325 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAPN3. Location: chromosome 15, position 42,703,087. 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
15:42703087
Cytoband
15q15.1
HGVS
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)
Allele change
Missense_H757Y

Associated conditions / phenotypes

Limb-Girdle Muscular Dystrophy, Recessive|Autosomal recessive limb-girdle muscular dystrophy type 2A

Public references

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