| 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 (#0000244) |
| Patient ID |
pat1rpl500005 |
| Gender |
m |
| Malformations |
Micrognathia, palpebral ptosis, cleft palate, triphalangeal thumb, brachydactyly, learning difficulties, atrial septal defect, aortic valve stenosis, short stature |
| Growth Retardation |
na |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
de novo, in patient |
| Reference |
Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print] |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
03 |
| DNA change |
c.183_184delTT (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Ile61MetfsX51 |
| Frequency |
- |
| DB-ID |
RPL5_00005 |
| Location |
- |
| Remarks |
Deletion |
| Molecula Mechanisms |
slippage |
|
