Variant (rsID / SNP)
rs121909374
rs121909374 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,364,129. Clinical significance in the table: Pathogenic.
Reference-table entries
MYBPC3Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:47364129
- Cytoband
- 11p11.2
- HGVS
- NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
- Allele change
- Missense_E542Q
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 4|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Primary familial dilated cardiomyopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.