Variant (rsID / SNP)
rs45478699
rs45478699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,890,217. Clinical significance in the table: Likely benign.
Reference-table entries
MYH7Likely benign
- Clinical significance (as recorded)
- Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23890217
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
- Allele change
- Missense_D1096Y
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 1|Dilated cardiomyopathy 1S|Hypertrophic cardiomyopathy|Primary dilated cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Myosin storage myopathy|MYH7-related skeletal myopathy|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.