SF3B1
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in BL not firmly established |
 |
1 | high-confidence DLBCL gene |
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 3.00 |
| BL | Thomas cohort | NA |
| BL | Panea cohort | NA |
| DLBCL | GAMBL genomes | 2.87 |
| DLBCL | Schmitz cohort | 2.13 |
| DLBCL | Reddy cohort | 2.00 |
| DLBCL | Chapuy cohort | 2.99 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 2.277 | 0.000 |
| DLBCL | No | No | 3.245 | 7.004 |
| FL | No | No | 2.408 | 0.000 |
Note
First described in BL in 2012 by Love C
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr2 | 198266833 | T>G | K700T |
| chr2 | 198266832 | T>G | K700N |
| chr2 | 198266821 | A>C | I704S |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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