This page is now frozen. No new data will be added. No further corrections will be made.
The PLOD1 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 (#0001826) |
| Patient ID |
Patient IV:3 |
| Disease |
Kyphoscoliotic EDS |
| Reference |
Gok et al., 2012 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
The patient is the third child of non-consanguineous Turkish parents. He has two elder male siblings who did not display symptoms of kyphoscoliotic EDS. |
| Ethnic origin |
Turkish |
| Variant data |
| Allele |
Paternal (inferred) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
13 |
| DNA change |
c.1362delC (View in UCSC Genome Browser, Ensembl) |
| dbSNP |
- |
| Type |
Deletion |
| Mutation Effect |
Frameshift |
| Protein |
p.Tyr455Thrfs*2 |
| RNA change |
- |
| Re-site |
- |
| DB-ID |
PLOD1_00007 |
| Frequency |
- |
|
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