| 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 (#0000223) |
| Patient ID |
pat1rps2400003 |
| Gender |
f |
| Malformations |
Thenar muscle |
| Growth Retardation |
yes |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
sporadic?(parents not tested) |
| Reference |
Badhai et al (2009) Biochim Biophys Acta 1792(10), 1036-42 |
| Template |
DNA |
| Technique |
SEQ, RT-QPCR, Western, Northern |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
01 |
| DNA change |
c.1A>G (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Met1Val |
| Frequency |
0/200 |
| DB-ID |
RPS24_00003 |
| Location |
- |
| Remarks |
Missense mutation |
| Molecula Mechanisms |
transition |
| Functional_Classific |
Reduces RPS24 mRNA levels |
| mRNA_Expression |
Reduced mRNA levels compared to controls in primary fibroblasts. |
| Protein_Expression |
Reduced protein levels compared to controls in primary fibroblasts. |
| Protein_Localization |
- |
| rRNA_Metabolism |
- |
| Protein_Synthesis |
- |
| Cell_Growth |
S phase defect |
| Functional_Remarks |
- |
| Functional_Reference |
Badhai et al (2009) Biochim Biophys Acta 1792(10), 1036-42 |
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