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 (#0000163) |
Patient ID |
pat1rps1900078 |
Gender |
f |
Malformations |
Left kidney aplasia/hypoplasia |
Growth Retardation |
yes |
Steroid Response |
na |
Complications |
- |
Variant Origin |
de novo, in patient |
Reference |
Gustavsson et al (1997) J Med Genet 34, 779-82 |
Template |
DNA |
Technique |
Kar, FISH |
Remarks |
- |
# Reported |
1 |
Variant data |
Allele |
Unknown |
Reported pathogenicity |
Pathogenic |
Concluded pathogenicity |
Pathogenic |
Exon |
00 |
DNA change |
t(X;19) (p21;q13) |
RNA change |
- |
Protein |
p.0 |
Frequency |
- |
DB-ID |
RPS19_00078 |
Location |
- |
Remarks |
Translocation; haploinsufficiency |
Molecula Mechanisms |
- |
Functional_Classific |
Reduces RPS19 mRNA levels |
mRNA_Expression |
Normal in peripheral blood MNC, but reduced levels compared to controls in BM CD34+. No abnormal size transcript [1]. |
Protein_Expression |
- |
Protein_Localization |
- |
rRNA_Metabolism |
18S rRNA processing defect, as indicated by increase in 21S pre-rRNA (21S/18SE ratio: 3,1) (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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