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 (#0001059)
||Anophthalmia, brain malformations|
||, United Kingdom (Great Britain):Edinburgh|
||Very detailed anatomical and histological analysis of compound heterozygous brain phenotype, revealing numerous macroscopic and microscopic developmental defects. A male sib (Case 2) was similarly affected.|
||Gross brain malformations; anophthalmia, rudimentary nose. Foetus inherited PAX6 mutations from mother and father. Pregnancy terminated at 24 weeks after severe malformations were detected by ultrasound. |
|Legacy DNA ID
||PTC predicted - NMD likely|
||Protein synthesis unlikely|
|5' Sequence Context
|3' Sequence Context
||Affected foetus also inherited a paternal PAX6 mutation|