This page is now frozen. No new data will be added. No further corrections will be made.
The ADAMTS2 mutation data have been added to a new database.
| 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 (#0001835) |
| Patient ID |
|
| Disease |
- |
| Reference |
Iglesias et al., 2018 |
| Template |
DNA |
| Technique |
WGS |
| Remarks |
This variant is associated with central corneal thickness, derived from a meta-analysis of GWAS. It has an average population frequency of 0.29 in Europeans and 0.11 in an Asian population. |
| Ethnic origin |
- |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Probably no pathogenicity |
| Concluded pathogenicity |
Probably no pathogenicity |
| Exon |
3i |
| DNA change |
c.688+28769dup (View in UCSC Genome Browser, Ensembl) |
| dbSNP |
- |
| Type |
Duplication |
| Mutation Effect |
Splice site |
| Protein |
- |
| RNA change |
- |
| Re-site |
- |
| Frequency |
- |
| DB-ID |
ADAMTS2_00012 |
|
