Variant (rsID / SNP)
rs730880724
rs730880724 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,365,103. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MYBPC3Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 11:47365103
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs)
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.