Variant (rsID / SNP)
rs730880712
rs730880712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,364,172. Clinical significance in the table: Pathogenic.
Reference-table entries
MYBPC3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 11:47364172
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs)
Associated conditions / phenotypes
Hypertrophic cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.