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Variant (rsID / SNP)

rs140758113

PLOD1

rs140758113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLOD1. Location: chromosome 1, position 12,017,961. 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
1:12017961
Cytoband
1p36.22
HGVS
NM_000302.4(PLOD1):c.804C>T (p.Thr268=)
Allele change
Synonymous_T315T

Associated conditions / phenotypes

Cardiovascular phenotype|Ehlers-Danlos syndrome, kyphoscoliotic type 1

Public references

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