Variant (rsID / SNP)

rs776043976

rs776043976 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAPN3. Location: chromosome 15, position 42,691,838. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CAPN3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:42691838
Cytoband: 15q15.1
HGVS: NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
Allele change: Missense_R448C

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2A

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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