| 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 (#0000114) |
| Patient ID |
pat1rps1900044 |
| Gender |
na |
| Malformations |
Not available |
| Growth Retardation |
na |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
sporadic?(parents not tested) |
| 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 |
03 |
| DNA change |
c.106_107insA (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Thr36AsnfsX15 |
| Frequency |
- |
| DB-ID |
RPS19_00044 |
| Location |
- |
| Remarks |
Insertion |
| Molecula Mechanisms |
slippage |
| Functional_Classific |
Reduces RPS19 mRNA levels |
| mRNA_Expression |
2 to 4-fold decreased compared to controls; low amount of aberrant mRNA detectable, likely subjected to NMD (BM CD34+ and peripheral blood MNC) [1] |
| Protein_Expression |
2-fold protein reduction in CD34+ BM cells, normal levels in peripheral MNC cells. Putative truncated protein not detectable [1] |
| Protein_Localization |
- |
| rRNA_Metabolism |
- |
| Protein_Synthesis |
- |
| Cell_Growth |
- |
| Functional_Remarks |
- |
| Functional_Reference |
[1] Gazda et al (2004) Br J Haematol 127, 105-13 |
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