Please note that we are in the process of moving the TSC Variation databases from the current LOVD2 platform to LOVD3. While the classification of variants in LOVD2 are updated as necessary, other information such as the exon numbering are not being updated in LOVD2. Please continue to use LOVD2 to check for variants until we have completed data transfer to LOVD3.
|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 (#0002195)
||c.993C>T (View in UCSC Genome Browser, Ensembl)|
||seen in 5/48 alleles|