Variant (rsID / SNP)
rs397516073
rs397516073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,369,407. Clinical significance in the table: Pathogenic.
Reference-table entries
MYBPC3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:47369407
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.821+1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Hypertrophic cardiomyopathy|Cardiovascular phenotype|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy|Primary dilated cardiomyopathy|SUDDEN INFANT DEATH SYNDROME|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.