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The COL3A1 mutation data have been added to a new database.
|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 (#0001809)
||Busch et al., 2016|
||Patient is a 45 year old female. The patient's mother and sister both had lethal internal bleeding. |
||No known pathogenicity|
||c.3508G>A (View in UCSC Genome Browser, Ensembl)|