| 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 (#0000187) |
| Patient ID |
pat1rps1900099 |
| Gender |
f |
| Malformations |
Thumb |
| Growth Retardation |
yes |
| Steroid Response |
yes |
| Complications |
- |
| Variant Origin |
sporadic |
| Reference |
Badhai et al (2009) Biochim Biophys Acta 1792(10), 1036-42 |
| Template |
DNA |
| Technique |
SEQ, RT-QPCR, Western, Northern |
| Remarks |
Mild anemia |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
03 |
| DNA change |
c.72-2A>C (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p? |
| Frequency |
- |
| DB-ID |
RPS19_00099 |
| Location |
Intron 2 |
| Remarks |
Acceptor splice site defect |
| Molecula Mechanisms |
transversion |
| Functional_Classific |
Reduces RPS19 mRNA levels |
| mRNA_Expression |
Reduces RPS19 mRNA levels |
| Protein_Expression |
Reduces protein levels |
| Protein_Localization |
- |
| rRNA_Metabolism |
Yes |
| Protein_Synthesis |
- |
| Cell_Growth |
G1 arrest |
| Functional_Remarks |
- |
| Functional_Reference |
Badhai et al (2009) Biochim Biophys Acta 1792(10), 1036-42 |
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