Variant (rsID / SNP)
rs143139258
rs143139258 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL2. Location: chromosome 12, position 111,350,901. 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
- 12:111350901
- Cytoband
- 12q24.11
- HGVS
- NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
- Allele change
- Missense_E134A
Associated conditions / phenotypes
Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 10|Cardiovascular phenotype|Dilated cardiomyopathy 1S|Primary familial hypertrophic cardiomyopathy|Primary dilated cardiomyopathy|Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.