Variant (rsID / SNP)
rs76655666
rs76655666 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,356,997. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYLKConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:123356997
- Cytoband
- 3q21.1
- HGVS
- NM_053025.4(MYLK):c.4882G>A (p.Val1628Met)
- Allele change
- Missense_V1452M
Associated conditions / phenotypes
Aortic aneurysm, familial thoracic 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.