| 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 (#0000577) |
| Patient ID |
AKU_DB_320 |
| Disease |
AKU |
| Reference |
Soltysova et al. (2021), Russia:Moscow |
| Remarks |
Compound heterozygous |
| # Reported |
1 |
| Geographic origin |
Russia |
| Patient/Affected_per_Family |
2 |
| Families Patients |
1 |
| Submitter |
Alexander Kuzin |
| Variant data |
| Allele |
Parent #2 |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| DB-ID |
AKU_00090 |
| Exon |
12i |
| DNA change |
c.1007-2A>T |
| RNA change |
r.(spl?) |
| Protein |
p.(Arg336Serfs*5) |
| Original description |
ivs12-2A>T |
| Links |
rs1261269370 |
| Variant remarks |
aberrant splicing (AS)/exon skipping/frameshift? |
| Predicted Mutation Effect** |
- |
| Reference |
Vilboux et al. (2009) |
| Mutation HOT-SPOT |
CCC triplet |
| Allele code |
AKU_DB_320b |
| Type |
substitution |
| Re-site |
- |
| Frequency |
- |
| Template |
DNA |
| Technique |
SEQ |
| Location |
intron |
|
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