| 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 (#0000232) |
| Patient ID |
pat1rps1700001 |
| Gender |
m |
| Malformations |
Macrocytic anemia; increased eADA; flat thenar and facial dysmorphy |
| Growth Retardation |
yes |
| Steroid Response |
yes |
| Complications |
- |
| Variant Origin |
de novo, in patient |
| Reference |
Cmejla et al (2007) Hum Mutat.28, 1178-82 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
01 |
| DNA change |
c.2T>G (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Met1Arg |
| Re-site |
NlaIII(-) |
| Frequency |
- |
| DB-ID |
RPS17_00001 |
| Location |
- |
| Remarks |
elimination of the natural start site for protein biosynthesis |
| Molecula Mechanisms |
transversion |
|
