|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 (#0002529)
||No tumor. Destroys translation initiation codon. Unilaterally affected father (proband) and very young son (unknown phenotype) carry mutation in blood|
||c.1A>G (View in UCSC Genome Browser, Ensembl)|
|expected consequence type
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