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 (#0000503)
||Microphthalmia, Nystagmus, Cataract|
||, United Kingdom (Great Britain):Edinburgh|
||There is no evidence that this change has a functional effect on RNA processing or that it has arisen de novo in this individual. Therefore it is best considered a polymorphism at present.|
||Microcornea, partial sclerocornea + band shaped keratitis in left eye. Normal brain CT scan|
||No known pathogenicity|
|Legacy DNA ID
||Intronic change does not affect any known splice signals|
|5' Sequence Context
|3' Sequence Context