| 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 (#0000109) |
| Patient ID |
pat1rps1900040 |
| Gender |
na |
| Malformations |
Not available |
| Growth Retardation |
na |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
familial |
| Reference |
Gazda et al (2004) Br J Haematol 127, 105-13 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
02 |
| DNA change |
c.36_37insAG (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Glu13ArgfsX17 |
| Frequency |
- |
| DB-ID |
RPS19_00040 |
| Location |
- |
| Remarks |
Insertion |
| Molecula Mechanisms |
slippage |
| Functional_Classific |
Reduces RPS19 mRNA levels |
| mRNA_Expression |
2 to 4-fold decreased compared to controls. Aberrant mRNA not detectable, likely subjected to NMD (BM CD34+ and peripheral blood MNC) [1] |
| Protein_Expression |
- |
| Protein_Localization |
- |
| rRNA_Metabolism |
- |
| Protein_Synthesis |
- |
| Cell_Growth |
- |
| Functional_Remarks |
- |
| Functional_Reference |
[1] Gazda et al (2004) Br J Haematol 127, 105-13 |
|
