| 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 (#0002536) |
| Patient ID |
1113 |
| Phenotype |
bilateral rb |
| Mut. origin |
- |
| Tissue |
blood |
| Template |
DNA |
| tumor-genotype |
- |
| family history |
- |
| Reference |
- |
| # Reported |
1 |
| Published |
- |
| Remarks |
Blood: hetero G>C sub in last base of exon 8 causes splice score to decrease from 88 to 73.5 and is likely to lead to out-of-frame skipping of exon 8 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Unknown |
| Concluded pathogenicity |
Unknown |
| g-position |
g.59793G>C |
| cDNA change |
c.861G>C |
| Type |
substitution |
| Exon |
08_ex |
| RNA change |
p.Glu287Asp/skip exon 8 |
| Protein |
p.Glu287Asp/skip exon 8 |
| RBWiki |
Glu287Asp/splice |
| expected consequence type |
missense-splice |
| DB-ID |
RB1_00540 |
| originated_in |
- |
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