Variant (rsID / SNP)
rs186964570
rs186964570 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,902,865. Clinical significance in the table: Benign.
Reference-table entries
MYH7Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23902865
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
- Allele change
- Missense_A26V
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Myosin storage myopathy|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1S|Left ventricular noncompaction cardiomyopathy|MYH7-related skeletal myopathy|Cardiovascular phenotype|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.