| 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 (#0000774) |
| Patient ID |
AKU_DB_457 |
| Disease |
AKU |
| Reference |
submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava |
| Remarks |
Homozygot |
| # Reported |
1 |
| Geographic origin |
Turkey |
| Patient/Affected_per_Family |
1 |
| Families Patients |
1 |
| Submitter |
Andrea Zatkova |
| Variant data |
| Allele |
Parent #2 |
| Reported pathogenicity |
Probably no pathogenicity |
| Concluded pathogenicity |
Unknown |
| DB-ID |
AKU_00217 |
| Exon |
09i |
| DNA change |
c.650-87A>G |
| RNA change |
r.(spl?) |
| Protein |
p.(?) |
| Original description |
ivs9-87A>G |
| Links |
- |
| Variant remarks |
aberrant splicing/CR 3? ss-176 activation/reduced exon inclusion (splicing minigene experiment) |
| Predicted Mutation Effect** |
- |
| Reference |
submitted, Dr. Andrea Zatkova |
| Mutation HOT-SPOT |
- |
| Allele code |
AKU_DB_457b |
| Type |
substitution |
| Re-site |
- |
| Frequency |
- |
| Template |
DNA |
| Technique |
SEQ |
| Location |
intron |
|
|
