Variant (rsID / SNP)
rs2069540
rs2069540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,902,753. Clinical significance in the table: Benign.
Reference-table entries
MYH7Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23902753
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.189C>T (p.Thr63=)
- Allele change
- Synonymous_T63T
Associated conditions / phenotypes
Cardiovascular phenotype|MYH7-related skeletal myopathy|Myosin storage myopathy|Dilated Cardiomyopathy, Dominant|Hypertrophic cardiomyopathy|Dilated cardiomyopathy 1S|Cardiomyopathy|Hypertrophic cardiomyopathy 1|MYH7-related late-onset scapuloperoneal muscular dystrophy|Myopathy, myosin storage, autosomal recessive
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.