| 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 (#0003434) |
| Patient ID |
#3000/15 |
| Phenotype |
bilateral rb |
| Mut. origin |
- |
| Tissue |
blood |
| Template |
DNA |
| tumor-genotype |
- |
| family history |
familial |
| Reference |
Italy:Siena |
| # Reported |
1 |
| Published |
unpublished |
| Remarks |
Disruption of C-terminus.
Hyypomorphic mutation and parental of origin effect |
| Submitter |
Alessandra Renieri |
| Variant data |
| Allele |
Paternal (confirmed) |
| Reported pathogenicity |
Unknown |
| Concluded pathogenicity |
Unknown |
| g-position |
g.49050981T>C |
| cDNA change |
c.2663+2T>C |
| Type |
Substitution |
| Exon |
IVS25 |
| RNA change |
r.2521_2663del |
| Protein |
p.(Thr841*) |
| RBWiki |
- |
| expected consequence type |
splice |
| DB-ID |
RB1_01664 |
| originated_in |
germline |
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