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Variant (rsID / SNP)

rs144383442

CAPN3

rs144383442 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAPN3. Location: chromosome 15, position 42,679,977. 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
15:42679977
Cytoband
15q15.1
HGVS
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
Allele change
Synonymous_D175D

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.