Variant (rsID / SNP)

rs200569129

rs200569129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLOD2. Location: chromosome 3, position 145,828,192. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PLOD2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:145828192
Cytoband: 3q24
HGVS: NM_182943.3(PLOD2):c.382A>G (p.Lys128Glu)
Allele change: Missense_K128E

Associated conditions / phenotypes

Bruck syndrome 2|Osteogenesis imperfecta

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.