Variant (rsID / SNP)
rs369552114
rs369552114 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAPN3. Location: chromosome 15, position 42,701,984. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
CAPN3Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:42701984
- Cytoband
- 15q15.1
- HGVS
- NM_000070.3(CAPN3):c.1993-1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Autosomal recessive limb-girdle muscular dystrophy type 2A|Autosomal recessive limb-girdle muscular dystrophy type 2A|Muscular dystrophy, limb-girdle, autosomal dominant 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.