| 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 (#0002538) |
| Patient ID |
1021 |
| Phenotype |
bilateral rb |
| Mut. origin |
- |
| Tissue |
tumor and blood |
| Template |
DNA |
| tumor-genotype |
- |
| family history |
- |
| Reference |
- |
| # Reported |
1 |
| Published |
unpublished |
| Remarks |
heterozygous in tumor and blood; last base of exon 10; reduces splice score from 72 to 59; expected to cause mis-splicing of exon 10 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Unknown |
| Concluded pathogenicity |
Unknown |
| g-position |
g.64439G>T |
| cDNA change |
c.1049G>T (View in UCSC Genome Browser, Ensembl) |
| Type |
Substitution |
| Exon |
10_ex |
| RNA change |
altered splicing |
| Protein |
p.Ser350Iso |
| RBWiki |
Ser350Iso |
| expected consequence type |
unknown |
| DB-ID |
RB1_01450 |
| originated_in |
- |
Please help to improve the quality of the data and report any error that you may find!
|
