| 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 (#0000008) |
| Patient ID |
pat3rps1900002 |
| Gender |
f |
| Malformations |
None |
| Growth Retardation |
no |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
de novo, in patient (paternal allele) |
| Reference |
Orfali et al (2004) Br J Haematol 125, 243-52 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
02 |
| DNA change |
c.34C>T (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Gln12X |
| Frequency |
- |
| DB-ID |
RPS19_00002 |
| Location |
- |
| Remarks |
Nonsense mutation |
| Molecula Mechanisms |
transition |
| Functional_Classific |
Unclassified |
| mRNA_Expression |
Aberrant mRNA might undergo NMD |
| Protein_Expression |
- |
| Protein_Localization |
- |
| rRNA_Metabolism |
Lower rate of ribosomal biogenesis in human dermal fibroblasts and defect in ITS1 processing of 18S rRNA (increase in 21S to 18SE pre-rRNA ratio). Accumulation of 45S and 41S precursors. Dermal fibroblasts show rounded and condensed nucleoli, with changes in nucleolar organization [1] |
| Protein_Synthesis |
- |
| Cell_Growth |
Impairs growth of skin fibroblasts [1] |
| Functional_Remarks |
- |
| Functional_Reference |
[1]Choesmel et al (2007) Blood 109, 1275-83 |
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