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Variant (rsID / SNP)

rs148044781

CAPN3

rs148044781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAPN3. Location: chromosome 15, position 42,693,989. 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
15:42693989
Cytoband
15q15.1
HGVS
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
Allele change
Missense_I502T

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.