Variant (rsID / SNP)
rs35159414
rs35159414 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLOD3. Location: chromosome 7, position 100,859,234. Clinical significance in the table: Benign.
Reference-table entries
PLOD3Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:100859234
- Cytoband
- 7q22.1
- HGVS
- NM_001084.5(PLOD3):c.570C>T (p.Asp190=)
- Allele change
- Synonymous_D190D
Associated conditions / phenotypes
Bone fragility with contractures, arterial rupture, and deafness
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.