Variant (rsID / SNP)
rs2231124
rs2231124 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,899,793. Clinical significance in the table: Benign.
Reference-table entries
MYH7Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23899793
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.975C>T (p.Asp325=)
- Allele change
- Synonymous_D325D
Associated conditions / phenotypes
Cardiovascular phenotype|MYH7-related skeletal myopathy|Dilated Cardiomyopathy, Dominant|Myosin storage myopathy|Left ventricular noncompaction cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.