The symbol and name for this gene were previously LEPRE1 and leucine proline-enriched proteoglycan (leprecan) 1. These changes were made in December 2014.
|About this overview [Show]
|This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.|
|Patient data (#0004024)
||Mohd Nawawi et al., 2018|
||P3H1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype.|
||c.26T>C (View in UCSC Genome Browser, Ensembl)|