|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 (#0001890)
||not reported, BL Gallie - Toronto|
||No tumor available. Proband is unilateral but spot on other eye. Mother carries the change and has retinal lesion.|
||c.694C>T (View in UCSC Genome Browser, Ensembl)|
|expected consequence type
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