Variant (rsID / SNP)
rs727504355
rs727504355 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,884,476. Clinical significance in the table: Uncertain significance.
Reference-table entries
MYH7Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23884476
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)
- Allele change
- Missense_A1763T
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 1|Left ventricular noncompaction cardiomyopathy|Hypertrophic cardiomyopathy|Myopathy, myosin storage, autosomal recessive|MYH7-related skeletal myopathy|Myosin storage myopathy|Dilated cardiomyopathy 1S|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.