Variant (rsID / SNP)

rs121434461

rs121434461 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLOD2. Location: chromosome 3, position 145,789,203. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PLOD2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:145789203
Cytoband: 3q24
HGVS: NM_182943.3(PLOD2):c.1856G>A (p.Arg619His)
Allele change: Missense_R598H

Associated conditions / phenotypes

Bruck syndrome 2

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.