Variant (rsID / SNP)

rs142978362

rs142978362 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLOD1. Location: chromosome 1, position 12,012,768. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PLOD1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:12012768
Cytoband: 1p36.22
HGVS: NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
Allele change: Missense_K232N

Associated conditions / phenotypes

Cardiovascular phenotype|Ehlers-Danlos syndrome, kyphoscoliotic type 1|Ehlers-Danlos syndrome

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.