| 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 (#0002440) |
| Patient ID |
Fam1187 |
| Phenotype |
unilateral rb |
| Mut. origin |
- |
| Tissue |
blood + tumor |
| Template |
DNA |
| tumor-genotype |
heterozygous |
| family history |
isolated |
| Reference |
not reported, BL Gallie - Toronto |
| # Reported |
1 |
| Published |
unpublished |
| Remarks |
Tumor showed het IVS19-1G>C and het c.1981C>T and het c.45_53del, blood and tumor showed hetero c.45_53del9 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
No known pathogenicity |
| Concluded pathogenicity |
No known pathogenicity |
| g-position |
g.2104_2112del |
| cDNA change |
c.45_53del (View in UCSC Genome Browser, Ensembl) |
| Type |
deletion |
| Exon |
01_ex |
| RNA change |
- |
| Protein |
p.Ala16_Ala18del |
| RBWiki |
Ala16_Ala18del |
| expected consequence type |
in-frame |
| DB-ID |
RB1_00957 |
| originated_in |
- |
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