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 (#0001601)
||Wang 2012 , United Kingdom (Great Britain):Edinburgh|
||Affected dizygotic twin III:2 has same mutation. Affected father not tested.|
||35 Chinese microcornea patients|
||Bilateral microcornea (9 mm), full iris with mild structural anomaly, foveal hypoplasia|
|Legacy DNA ID
||c.83_85delAGA (View in UCSC Genome Browser)|
||In-frame deletion of one codon predicted|
||Deletion of lysine from first helix of PD|
|5' Sequence Context
|3' Sequence Context