| 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 (#0000450) |
| Patient ID |
AKU_DB_251 |
| Disease |
AKU |
| Reference |
submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava |
| Remarks |
Compound heterozygous |
| # Reported |
1 |
| Geographic origin |
Italy |
| Patient/Affected_per_Family |
2 |
| Families Patients |
1 |
| Submitter |
Andrea Zatkova |
| Variant data |
| Allele |
Parent #1 |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Probably pathogenic |
| DB-ID |
AKU_00102 |
| Exon |
14 |
| DNA change |
c.1201G>C |
| RNA change |
r.(?) |
| Protein |
p.(Glu401Gln) |
| Original description |
E401Q |
| Links |
rs767159114 |
| Variant remarks |
missense |
| Predicted Mutation Effect** |
Active site disruption, Hexamer disruption |
| Reference |
Mannoni et al. (2004) |
| Mutation HOT-SPOT |
- |
| Allele code |
AKU_DB_251a |
| Type |
substitution |
| Re-site |
(-)TfiI ? |
| Frequency |
- |
| Template |
DNA |
| Technique |
SEQ |
| Location |
exon |
|
|
