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 (#0000493)
||Nystagmus, Iris Hypoplasia, Foveal Hypoplasia|
||, United Kingdom (Great Britain):Edinburgh|
||Authors suggest possible use of alternative initiation codon in exon 3. Erroneously entered in old database as IVS+4G>C|
||Affected mother and two maternal aunts have variable iris defects with foveal hypoplasia and nystagmus|
|Legacy DNA ID
||Skipping of exon 4 confirmed by RT-PCR|
||Possible failure of translation or initiation from cryptic start sites|
|5' Sequence Context
|3' Sequence Context