Variant (rsID / SNP)

rs141692280

rs141692280 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLOD1. Location: chromosome 1, position 12,030,760. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PLOD1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:12030760
Cytoband: 1p36.22
HGVS: NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser)
Allele change: Missense_P644S

Associated conditions / phenotypes

Ehlers-Danlos syndrome, kyphoscoliotic type 1

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.