Variant (rsID / SNP)
rs11570112
rs11570112 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,355,475. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
MYBPC3Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:47355475
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)
- Allele change
- Missense_Q998E
Associated conditions / phenotypes
Primary dilated cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Primary dilated cardiomyopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.