| 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 (#0002477) |
| Patient ID |
110-3 |
| Phenotype |
unilateral rb |
| Mut. origin |
germline |
| Tissue |
blood |
| Template |
DNA |
| tumor-genotype |
unknown |
| family history |
familial |
| Reference |
Israel:Jerusalem |
| # Reported |
1 |
| Published |
unpublished |
| Remarks |
2 children affected with unilateral retinoblastoma while the father who has the mutation does not have signs of RB |
| Submitter |
Israela Lerer |
| Variant data |
| Allele |
Paternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Probably pathogenic |
| g-position |
- |
| cDNA change |
c.539C>G (View in UCSC Genome Browser, Ensembl) |
| Type |
Substitution |
| Exon |
5 |
| RNA change |
nd |
| Protein |
p.Ser180X/exon 5 skip |
| RBWiki |
- |
| expected consequence type |
splice |
| DB-ID |
RB1_01412 |
| originated_in |
- |
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