|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 (#0003586)
||Rolvien et al., 2018|
||The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien.|
The variant detected in this patient is probably not pathogeneic as it has been found in 1 of 289 Asian individuals studied by the 1000 Genomes project and in 1 of 585 European individuals studied by the NHLBI Exome Sequencing Project (ESP).
||Probably no pathogenicity|
||c.3313G>A (View in UCSC Genome Browser, Ensembl)|