Variant (rsID / SNP)
rs2069544
rs2069544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,894,580. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYH7Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23894580
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.2334C>T (p.Asp778=)
- Allele change
- Synonymous_D778D
Associated conditions / phenotypes
Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy|Dilated cardiomyopathy 1S|MYH7-related skeletal myopathy|Hypertrophic cardiomyopathy 1|Myosin storage myopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.