| 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 (#0000116) |
| Patient ID |
pat1rps1900045 |
| Gender |
f |
| Malformations |
None |
| Growth Retardation |
na |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
familial |
| Reference |
Matsson et al (1999) Hum Genet 105, 496-500 |
| Template |
DNA |
| Technique |
SEQ, Southern |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Paternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
03 |
| DNA change |
c.[134_135delinsAA;139_140insTC] (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.[Leu45Gln;Pro47LeufsX30] |
| Frequency |
- |
| DB-ID |
RPS19_00045 |
| Location |
- |
| Remarks |
Insertion/Deletion |
| Molecula Mechanisms |
- |
| Functional_Classific |
Unclassified |
| mRNA_Expression |
Levels similar to controls could exclude NMD (BM CD34+ and PB MNC) [1] |
| Protein_Expression |
- |
| Protein_Localization |
- |
| rRNA_Metabolism |
18S rRNA processing defect, as indicated by increase in 21S pre-rRNA (21S/18SE ratio:3,8) (BM CD34- cells) [2] |
| Protein_Synthesis |
- |
| Cell_Growth |
- |
| Functional_Remarks |
- |
| Functional_Reference |
[1] Hamaguchi et al (2002) Blood 100, 2724-31; [2] Flygare et al (2007) Blood 109, 980-6 |
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