| 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 (#0000182) |
| Patient ID |
pat1rps1900094 |
| Gender |
m |
| Malformations |
Cranofacial abnormalities, urogenital abnormalities, mental retardation, strabismus |
| Growth Retardation |
na |
| Steroid Response |
yes |
| Complications |
- |
| Variant Origin |
de novo, in patient |
| Reference |
Quarello et al (2008) Haematologica Nov. 93, 1748-50 |
| Template |
DNA |
| Technique |
MPLA, microsatellites |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
00 |
| DNA change |
deletion of a complete allele (VI) |
| RNA change |
- |
| Protein |
p.0 |
| Frequency |
- |
| DB-ID |
RPS19_00094 |
| Location |
- |
| Remarks |
Large deletion; haploinsufficiency |
| Molecula Mechanisms |
- |
| Functional_Classific |
- |
| mRNA_Expression |
- |
| Protein_Expression |
- |
| Protein_Localization |
- |
| rRNA_Metabolism |
- |
| Protein_Synthesis |
- |
| Cell_Growth |
- |
| Functional_Remarks |
- |
| Functional_Reference |
- |
|
