| 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 (#0002613) |
| Patient ID |
|
| Disease |
OI |
| Reference |
Rubinato et al., 2014 |
| Template |
DNA |
| Technique |
PCR, SEQ |
| Remarks |
The parents are possibly related.
The 33,892 bp deletion spans exons 1 and 2. It was originally reported as chr9:108444592_108478483del, probably for an earlier genome build. |
| Ethnic origin |
Albanian |
| Variant data |
| Allele |
Paternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
01 |
| DNA change |
GRCh38 chr9:g.105,682,311_105,716,202del |
| dbSNP |
- |
| Type |
Deletion |
| Mutation effect |
Exon deletion |
| Protein |
- |
| RNA change |
- |
| Re-site |
- |
| DB-ID |
TMEM38B_00004 |
|
