| 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 (#0001831) |
| Patient ID |
Patient III:2 |
| Disease |
Gastroschisis |
| Reference |
Salinas-Torres et al., 2020 |
| Template |
DNA |
| Technique |
SEQ, WES |
| Remarks |
The proband and her half-sister were born with gastroschisis. Both individuals and their shared mother carried the variant. |
| Ethnic origin |
Mexican |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Probably pathogenic |
| Concluded pathogenicity |
No known pathogenicity |
| Exon |
13i |
| DNA change |
c.1471-8C>T (View in UCSC Genome Browser, Ensembl) |
| dbSNP |
rs201661871 |
| Type |
Substitution |
| Mutation Effect |
Splice site |
| Protein |
- |
| RNA change |
- |
| Re-site |
- |
| DB-ID |
PLOD1_00060 |
|
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