This database has been closed to new submissions.
The date of last curation was 07 June 2017 and the 'last update' on 04
August 2018 was a partial and uncurated update.
|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 (#0000411)
||Nystagmus, Ectopia Pupillae|
||, United Kingdom (Great Britain):Edinburgh|
||In the genomic sequence trace (from blood DNA) the mutant allele was present at approximately 10%. Therefore this individual may be a somatic mosaic for the mutation|
||Variant aniridia: nystagmus with nasally displaced pupils|
|Legacy DNA ID
||c.26A>T (View in UCSC Genome Browser)|
||Asn (aau) > Ile (auu) predicted|
||Predicted missense mutation. Asn9 is conserved in all paired domains|
|5' Sequence Context
|3' Sequence Context