| 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 (#0002670) |
| Patient ID |
RB20 |
| Phenotype |
unilateral rb |
| Mut. origin |
germline |
| Tissue |
blood |
| Template |
DNA |
| tumor-genotype |
- |
| family history |
familial low penetrance |
| Reference |
Abidi et al. (2011) Mol Vis.;17:3541-7 |
| # Reported |
1 |
| Published |
- |
| Remarks |
RB20 and RB21 (same family) have same causative splice site mutation. Fathers and other family members were healthy carriers of this mutation |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Unknown |
| Concluded pathogenicity |
Unknown |
| g-position |
g.59649A>G |
| cDNA change |
c.719–2A>G |
| Type |
Substitution |
| Exon |
07_in |
| RNA change |
Altered splicing |
| Protein |
- |
| RBWiki |
- |
| expected consequence type |
unknown |
| DB-ID |
RB1_01509 |
| originated_in |
germline |
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