Variant (rsID / SNP)
rs200352299
rs200352299 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,362,731. 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
- 11:47362731
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)
- Allele change
- Missense_E619K
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.