Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs878854364

CAPN3

rs878854364 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAPN3. Location: chromosome 15, position 42,678,424. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CAPN3Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:42678424
Cytoband
15q15.1
HGVS
NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)
Allele change
Nonsense_R147X

Associated conditions / phenotypes

Muscular dystrophy, limb-girdle, autosomal dominant 4|Autosomal recessive limb-girdle muscular dystrophy type 2A|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.