Gene entry
PLOD3
procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
- Chromosome
- 7
- Cytoband
- 7q22.1
- Variants (rsID)
- 14
PLOD3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q22.1). Its official name is “procollagen-lysine,2-oxoglutarate 5-dioxygenase 3”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs35159414Benignsingle nucleotide variantBone fragility with contractures, arterial rupture, and deafness
- rs41281013Benignsingle nucleotide variantBone fragility with contractures, arterial rupture, and deafness
- rs121434414Pathogenicsingle nucleotide variantBone fragility with contractures, arterial rupture, and deafness
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.