Variant (rsID / SNP)
rs199474808
rs199474808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL2. Location: chromosome 12, position 111,353,547. Clinical significance in the table: Uncertain significance.
Reference-table entries
MYL2Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:111353547
- Cytoband
- 12q24.11
- HGVS
- NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)
- Allele change
- Missense_N47K
Associated conditions / phenotypes
Primary familial hypertrophic cardiomyopathy|Premature ventricular contraction|Death in infancy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 10|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.