Variant (rsID / SNP)
rs876657852
rs876657852 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LOX. Location: chromosome 5, position 121,409,850. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
LOXPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:121409850
- Cytoband
- 5q23.1
- HGVS
- NM_002317.7(LOX):c.893T>G (p.Met298Arg)
- Allele change
- Missense_M298R
Associated conditions / phenotypes
Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 10
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
