Variant (rsID / SNP)
rs727503203
rs727503203 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,364,480. Clinical significance in the table: Pathogenic.
Reference-table entries
MYBPC3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 11:47364480
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs)
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.