Variant (rsID / SNP)

rs41281013

rs41281013 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLOD3. Location: chromosome 7, position 100,855,215. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PLOD3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:100855215
Cytoband: 7q22.1
HGVS: NM_001084.5(PLOD3):c.1144G>C (p.Asp382His)
Allele change: Missense_D382H

Associated conditions / phenotypes

Bone fragility with contractures, arterial rupture, and deafness

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.