| 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 (#0003137) |
| Patient ID |
PICR-RB1-M2 |
| Phenotype |
other cancer |
| Mut. origin |
somatic |
| Tissue |
SCLC mouse model |
| Template |
DNA |
| tumor-genotype |
unknown |
| family history |
unknown |
| Reference |
United Kingdom (Great Britain):Manchester |
| # Reported |
1 |
| Published |
unpublished |
| Remarks |
Will be published, link will be added once available
Tissue is a mouse tumour from explanted SCLC circulating tumour cells.
Mutation is insertion of a single T near the start of exon 20, predicted to cause a
premature stop codon in exon 20 leading to a severe truncation of the B
domain and cyclin domains essential for RB1 function. Similar truncations
have been described in sporadic and familial human retinoblastoma |
| Submitter |
Catriona Tate |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Probably pathogenic |
| Concluded pathogenicity |
Unknown |
| g-position |
13: 49033826 |
| cDNA change |
c.2100_2101insT (View in UCSC Genome Browser, Ensembl) |
| Type |
Insertion |
| Exon |
20 |
| RNA change |
- |
| Protein |
- |
| RBWiki |
- |
| expected consequence type |
frameshift |
| DB-ID |
RB1_01864 |
| originated_in |
somatic |
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