|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 (#0002531)
||Hetero in blood. No tumor available. Previously found by DL in uni proband and father?s blood but not in homozygous tumor; CD found this in two bilateral patients with known null mutations.|
||c.42C>T (View in UCSC Genome Browser, Ensembl)|
|expected consequence type
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