Variant (rsID / SNP)
rs727504287
rs727504287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,364,238. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYBPC3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Microsatellite
- Chromosome / position
- 11:47364238
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy 1|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.