Variant (rsID / SNP)
rs371513491
rs371513491 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,364,677. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYBPC3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:47364677
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser)
- Allele change
- Missense_G416S
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Cardiovascular phenotype|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.