Variant (rsID / SNP)
rs145532615
rs145532615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,892,910. Clinical significance in the table: Benign.
Reference-table entries
MYH7Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23892910
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
- Allele change
- Missense_M982T
Associated conditions / phenotypes
Increased left ventricular wall thickness|Hypertrophic cardiomyopathy|Inborn genetic diseases|Dilated cardiomyopathy 1S|MYH7-related skeletal myopathy|Dilated Cardiomyopathy, Dominant|Myosin storage myopathy|Cardiomyopathy|Left ventricular noncompaction|Hypertrophic cardiomyopathy 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.