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Variant (rsID / SNP)

rs188165334

PLOD1

rs188165334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLOD1. Location: chromosome 1, position 12,012,748. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PLOD1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:12012748
Cytoband
1p36.22
HGVS
NM_000302.4(PLOD1):c.535G>T (p.Asp179Tyr)
Allele change
Missense_D226Y

Associated conditions / phenotypes

Ehlers-Danlos syndrome, kyphoscoliotic type 1|Cardiovascular phenotype

Public references

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