Variant (rsID / SNP)
rs200625851
rs200625851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,364,285. Clinical significance in the table: Uncertain significance.
Reference-table entries
MYBPC3Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:47364285
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)
- Allele change
- Missense_G490R
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.