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 (#0000193)
||Foveal Hypoplasia, Aniridia, Cataract, Nystagmus|
||, United Kingdom (Great Britain):Edinburgh|
||Patient has 3 changes c.50A>G, c.85A>G and c.141+14_+25dup12 on the same allele. Unknown if any of these has occurred de novo. Substitution of I29 has previously been noted (p.Ile29Ser) so c.85A>G may be the pathological mutation|
||Nystagmus, cataract, foveal hypoplasia.|
|Legacy DNA ID
||c.85A>G (View in UCSC Genome Browser)|
||Ile (auu) > Val (guu) predicted|
||Missense substitution of invariant isolecuine|
|5' Sequence Context
|3' Sequence Context