Variant (rsID / SNP)

rs121434414

rs121434414 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLOD3. Location: chromosome 7, position 100,858,381. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PLOD3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:100858381
Cytoband: 7q22.1
HGVS: NM_001084.5(PLOD3):c.668A>G (p.Asn223Ser)
Allele change: Missense_N223S

Associated conditions / phenotypes

Bone fragility with contractures, arterial rupture, and deafness

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.