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Variant (rsID / SNP)

rs149914792

CAPN3

rs149914792 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAPN3. Location: chromosome 15, position 42,691,799. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CAPN3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:42691799
Cytoband
15q15.1
HGVS
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
Allele change
Missense_E435K

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2A|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.