Variant (rsID / SNP)
rs376754645
rs376754645 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,894,554. Clinical significance in the table: Likely benign.
Reference-table entries
MYH7Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23894554
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
- Allele change
- Missense_R787H
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1S|MYH7-related skeletal myopathy|Myosin storage myopathy|Left ventricular noncompaction cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.