Variant (rsID / SNP)
rs199789942
rs199789942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,418,852. 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
- 3:123418852
- Cytoband
- 3q21.1
- HGVS
- NM_053025.4(MYLK):c.3448+15G>A
- Allele change
- Silent
Associated conditions / phenotypes
Familial thoracic aortic aneurysm and aortic dissection|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.