Variant (rsID / SNP)
rs730880649
rs730880649 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,362,747. Clinical significance in the table: Pathogenic.
Reference-table entries
MYBPC3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 11:47362747
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs)
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.