The c.-14C>T variant almost always results in type V OI. No more patients with this variant will be added to the database unless the resulting OI type is other than type V.
|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 (#0003555)
||Rodriguez Celin et al., 2018|
||The proband is described as having "severe OI".|
||c.119C>T (View in UCSC Genome Browser, Ensembl)|