| 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 (#0000263) |
| Patient ID |
pat1rpl500019 |
| Gender |
m |
| Malformations |
Multiple congenital heart defects (small patent ductus arteriosus, mild mitral valve prolapse, mild mitral regurgitation) |
| Growth Retardation |
na |
| Steroid Response |
yes |
| Complications |
- |
| Variant Origin |
de novo, in patient |
| Reference |
Gazda et al (2008) Am J Hum Genet 83(6), 769-80 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
03 |
| DNA change |
c.173 delG (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Arg58LysfsX12 |
| Frequency |
- |
| DB-ID |
RPL5_00019 |
| Location |
- |
| Remarks |
Deletion |
| Molecula Mechanisms |
- |
|
