Variant (rsID / SNP)
rs3729986
rs3729986 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,371,598. Clinical significance in the table: Benign.
Reference-table entries
MYBPC3Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:47371598
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.472G>A (p.Val158Met)
- Allele change
- Missense_V158M
Associated conditions / phenotypes
Cardiovascular phenotype|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
