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 (#0003524)
||Diagnosed prenatally via U/S with OI. 5 fractures at age 21 months: bilateral femur fractures at least twice, bilateral ulnae, bilateral humerus, and a questionable skull fracture. Currently, at age 14, is ambulatory and plays sports. |
||African American |
||No known pathogenicity|
||c.1948G>C (View in UCSC Genome Browser, Ensembl)|