Variant (rsID / SNP)
rs45523233
rs45523233 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,883,040. 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
- 14:23883040
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)
- Allele change
- Synonymous_A1906A
Associated conditions / phenotypes
MYH7-related skeletal myopathy|Dilated Cardiomyopathy, Dominant|Left ventricular noncompaction cardiomyopathy|Myosin storage myopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.