Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200379491

CAPN3

rs200379491 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAPN3. Location: chromosome 15, position 42,702,630. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CAPN3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:42702630
Cytoband
15q15.1
HGVS
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
Allele change
Missense_D707G

Associated conditions / phenotypes

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.