Variant (rsID / SNP)
rs199865688
rs199865688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,359,047. 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
- 11:47359047
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
- Allele change
- Missense_A833T
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Paroxysmal atrial fibrillation|Primary familial hypertrophic cardiomyopathy|Primary dilated cardiomyopathy|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.