Variant (rsID / SNP)
rs104894370
rs104894370 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL2. Location: chromosome 12, position 111,356,949. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MYL2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:111356949
- Cytoband
- 12q24.11
- HGVS
- NM_000432.4(MYL2):c.52T>C (p.Phe18Leu)
- Allele change
- Missense_F18L
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 10|Cardiovascular phenotype
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.