Variant (rsID / SNP)
rs104893750
rs104893750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYL3. Location: chromosome 3, position 46,901,019. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYL3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:46901019
- Cytoband
- 3p21.31
- HGVS
- NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
- Allele change
- Missense_E143K
Associated conditions / phenotypes
Hypertrophic cardiomyopathy 8|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy|Primary familial hypertrophic cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.