| 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 (#0000166) |
| Patient ID |
pat1rps1900081 |
| Gender |
m |
| Malformations |
Mental retardation, short stature, short extremities, slight macrocephaly, skeletal malformations |
| Growth Retardation |
na |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
de novo, in patient |
| Reference |
Tentler et al (2000) J Med Genet 37, 128-31 |
| Template |
DNA |
| Technique |
SEQ, RT-QPCR, Western, FISH |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
00 |
| DNA change |
deletion of a complete allele (IV) |
| RNA change |
- |
| Protein |
p.0 |
| Frequency |
- |
| DB-ID |
RPS19_00081 |
| Location |
- |
| Remarks |
Large deletion; haploinsufficiency |
| Molecula Mechanisms |
- |
| Functional_Classific |
Reduces RPS19 mRNA levels |
| mRNA_Expression |
RPS19 mRNA reduced |
| Protein_Expression |
Skewed SSU/LSU protein ratio |
| Protein_Localization |
- |
| rRNA_Metabolism |
- |
| Protein_Synthesis |
- |
| Cell_Growth |
- |
| Functional_Remarks |
- |
| Functional_Reference |
Badhai et al (2009) FEBS Lett 583(12), 2049-53 |
|
