Variant (rsID / SNP)
rs121913628
rs121913628 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH7. Location: chromosome 14, position 23,893,268. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MYH7Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:23893268
- Cytoband
- 14q11.2
- HGVS
- NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)
- Allele change
- Missense_E924K
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 1|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|7 conditions|Left ventricular noncompaction cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.