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Variant (rsID / SNP)

rs17592

CAPN3

rs17592 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAPN3. Location: chromosome 15, position 42,678,464. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CAPN3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
15:42678464
Cytoband
15q15.1
HGVS
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)
Allele change
Missense_A160G

Associated conditions / phenotypes

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

Public references

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