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 (#0000074)
||, United Kingdom (Great Britain):Edinburgh|
||This is patient 95/06 in Eur J Hum Genet 11 163-169. The mutation was confirmed independently - see Mol Cell Probes 11 287-292, patient LASER)|
|Legacy DNA ID
||c.65_79del15 (View in UCSC Genome Browser)|
||Predicted in-frame deletion|
||Predicted deletion of 5 aa (PDSTR) from the first alpha helix of the N-terminal paired subdomain|
|5' Sequence Context
|3' Sequence Context