Variant (rsID / SNP)
rs2301610
rs2301610 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL2. Location: chromosome 12, position 111,353,556. Clinical significance in the table: Benign.
Reference-table entries
MYL2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:111353556
- Cytoband
- 12q24.11
- HGVS
- NM_000432.4(MYL2):c.132T>C (p.Ile44=)
- Allele change
- Synonymous_I44I
Associated conditions / phenotypes
Cardiovascular phenotype|Hypertrophic cardiomyopathy 10|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.