| 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 (#0000158) |
| Patient ID |
pat3rps1900076 |
| Gender |
f |
| Malformations |
PFO |
| Growth Retardation |
yes |
| Steroid Response |
yes |
| Complications |
- |
| Variant Origin |
familial |
| Reference |
Hanna Gazda, Children's Hospital Boston |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Paternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
04 |
| DNA change |
c.356+1G>A (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Ser59AlafsX4 |
| Frequency |
- |
| DB-ID |
RPS19_00076 |
| Location |
Intron 4 |
| Remarks |
Donor splice site defect; exon 4 deletion |
| Molecula Mechanisms |
transition |
| Functional_Classific |
Unclassified |
| mRNA_Expression |
Normal mRNA levels (peripheral blood MNC). Abnormally spliced form detected by PCR. Aberrant mRNA is translated [1] |
| Protein_Expression |
Protein size and levels are normal in peripheral blood MNC [1] |
| Protein_Localization |
- |
| rRNA_Metabolism |
- |
| Protein_Synthesis |
- |
| Cell_Growth |
- |
| Functional_Remarks |
- |
| Functional_Reference |
[1] Gazda et al (2004) Br J Haematol 127, 105-13 |
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