Variant (rsID / SNP)
rs104894363
rs104894363 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL2. Location: chromosome 12, position 111,356,964. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYL2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:111356964
- Cytoband
- 12q24.11
- HGVS
- NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
- Allele change
- Missense_A13T
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 10|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 1|Cardiovascular phenotype|Hypertrophic cardiomyopathy|MYL2-Related Disorders|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.