Variant (rsID / SNP)
rs11570052
rs11570052 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,371,414. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
MYBPC3Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:47371414
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile)
- Allele change
- Missense_V189I
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Long QT syndrome|Hypertrophic cardiomyopathy|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.