|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 (#0003553)
||Constantini et al., 2018|
||The proband's mother does not harbour the variant.|
The variant is incorrectly described as NM_005032:c.1096_1100del in the published account.
||c.1097_1101del (View in UCSC Genome Browser, Ensembl)|